chr3:37050323 A>G
Основные
ГенMLH1
ТранскриптNM_000249.3
кДНКc.472A>G
Белокp.N158D
Функцияmissense
Локализацияexon
hg19chr3:37050323 A>G
dbSNP
Синонимы
ТранскрипткДНКБелок
NM_001167617.2c.178A>Gp.Asn60Asp
NM_001258271.1c.472A>Gp.N158D
NM_001354620.1c.178A>Gp.Asn60Asp
NM_001354628.1c.472A>Gp.Asn158Asp
NM_001354629.1c.373A>Gp.Asn125Asp
NM_001354630.1c.472A>Gp.Asn158Asp
NM_001167618.2c.-252A>G
NM_001167619.2c.-179+1769A>G
NM_001258273.1c.-252A>G
NM_001258274.2c.-252A>G
NM_001354615.1c.-179+1769A>G
NM_001354616.1c.-179+1769A>G
NM_001354617.1c.-252A>G
NM_001354618.1c.-252A>G
NM_001354619.1c.-252A>G
NM_001354621.1c.-345A>G
NM_001354622.1c.-458A>G
NM_001354623.1c.-458A>G
NM_001354624.1c.-355A>G
NM_001354625.1c.-282+1769A>G
NM_001354626.1c.-355A>G
NM_001354627.1c.-355A>G
Частота в gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––