chr17:7577091 G>A
Основные
ГенTP53
ТранскриптNM_000546.5
кДНКc.847C>T
Белокp.R283C
Функцияmissense
Локализацияexon
hg19chr17:7577091 G>A
dbSNPrs149633775
Синонимы
ТранскрипткДНКБелок
NM_001126115.1c.451C>Tp.R151C
NM_001126116.1c.451C>Tp.R151C
NM_001126117.1c.451C>Tp.R151C
NM_001276697.1c.370C>Tp.R124C
NM_001276698.1c.370C>Tp.R124C
NM_001276699.1c.370C>Tp.R124C
NM_001126118.1c.730C>Tp.R244C
NM_001126112.2c.847C>Tp.R283C
NM_001126113.2c.847C>Tp.R283C
NM_001126114.2c.847C>Tp.R283C
NM_001276695.1c.730C>Tp.R244C
NM_001276696.1c.730C>Tp.R244C
NM_001276760.1c.730C>Tp.R244C
NM_001276761.1c.730C>Tp.R244C
ENST00000359597.8c.847C>Tp.Arg283Cys
ENST00000413465.6c.782+408C>T
Частота в gnomAD
GenomeExome
MAX0.00020.0002
AFR00.0002
AMR00
ASJ00
EAS00
FIN00
NFE0.00020.0002
SAS–0
ClinVar
IDФенотипЭффект
HGMD
IDФенотипЭффект
CM041458Gastric cancerDM