Linked Data
ClinVar Variation Id:
2394426
ClinVar RCV Id:
RCV004226013
dbSNP Id:
rs200627716
ExAC:
5:34998865 G / A
gnomAD v2:
5-34998865-G-A
gnomAD v3:
5-34998760-G-A
gnomAD v4:
5-34998760-G-A
COSMIC:
COSM1067469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34998760G>A , CM000667.2:g.34998760G>A | GRCh38 |
| NC_000005.9:g.34998865G>A , CM000667.1:g.34998865G>A | GRCh37 |
| NC_000005.8:g.35034622G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231420.11:c.1504C>T MANE Select | ENSP00000231420.6:p.Arg502Cys | |
| ENST00000231420.10:c.1504C>T | ENSP00000231420.6:p.Arg502Cys | |
| ENST00000510428.1:c.1279C>T | ENSP00000422799.1:p.Arg427Cys | |
| ENST00000512135.5:n.1174C>T | ||
| ENST00000618015.4:c.1279C>T | ENSP00000479154.1:p.Arg427Cys | |
| NM_001306173.1:c.1279C>T | NP_001293102.1:p.Arg427Cys | |
| NM_031900.3:c.1504C>T | NP_114106.1:p.Arg502Cys | |
| XM_005248337.2:c.1501C>T | XP_005248394.1:p.Arg501Cys | |
| XM_005248338.2:c.1309C>T | XP_005248395.1:p.Arg437Cys | |
| XM_011514077.1:c.1438-358C>T | XP_011512379.1:n.1438-358C>T | |
| XM_005248337.3:c.1501C>T | XP_005248394.1:p.Arg501Cys | |
| XM_005248338.3:c.1309C>T | XP_005248395.1:p.Arg437Cys | |
| XM_017009748.2:c.1279C>T | XP_016865237.1:p.Arg427Cys | |
| NM_031900.4:c.1504C>T MANE Select | NP_114106.1:p.Arg502Cys | |
| NM_001306173.2:c.1279C>T | NP_001293102.1:p.Arg427Cys |