chr3:37092067 A>G
Основные
ГенMLH1
ТранскриптNM_000249.3
кДНКc.2194A>G
Белокp.K732E
Функцияmissense
Локализацияexon
hg19chr3:37092067 A>G
dbSNP
Синонимы
ТранскрипткДНКБелок
NM_001258271.1c.1987A>Gp.K663E
NM_001167619.2c.1471A>Gp.Lys491Glu
NM_001258273.1c.1471A>Gp.K491E
NM_001167617.2c.1900A>Gp.Lys634Glu
NM_001167618.2c.1471A>Gp.Lys491Glu
NM_001258274.2c.1471A>Gp.Lys491Glu
NM_001354615.1c.1471A>Gp.Lys491Glu
NM_001354616.1c.1471A>Gp.Lys491Glu
NM_001354617.1c.1471A>Gp.Lys491Glu
NM_001354618.1c.1471A>Gp.Lys491Glu
NM_001354619.1c.1471A>Gp.Lys491Glu
NM_001354620.1c.1900A>Gp.Lys634Glu
NM_001354621.1c.1171A>Gp.Lys391Glu
NM_001354622.1c.1171A>Gp.Lys391Glu
NM_001354623.1c.1171A>Gp.Lys391Glu
NM_001354624.1c.1120A>Gp.Lys374Glu
NM_001354625.1c.1120A>Gp.Lys374Glu
NM_001354626.1c.1120A>Gp.Lys374Glu
NM_001354627.1c.1120A>Gp.Lys374Glu
NM_001354628.1c.2101A>Gp.Lys701Glu
NM_001354629.1c.2095A>Gp.Lys699Glu
NM_001354630.1c.2029A>Gp.Lys677Glu
Частота в gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
ClinVar
IDФенотипЭффект