Linked Data
ClinVar Variation Id:
347402
ClinVar RCV Id:
RCV000398832
dbSNP Id:
rs751423861
ExAC:
4:119259461 G / A
gnomAD v2:
4-119259461-G-A
gnomAD v3:
4-118338306-G-A
gnomAD v4:
4-118338306-G-A
COSMIC:
COSM4653761
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118338306G>A , CM000666.2:g.118338306G>A | GRCh38 |
| NC_000004.11:g.119259461G>A , CM000666.1:g.119259461G>A | GRCh37 |
| NC_000004.10:g.119478909G>A | NCBI36 |
| NG_023350.1:g.19462C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296498.3:c.511C>T MANE Select | ENSP00000296498.3:p.Arg171Ter | |
| NM_003619.3:c.511C>T | NP_003610.2:p.Arg171Ter | |
| XM_005263318.3:c.511C>T | XP_005263375.1:p.Arg171Ter | |
| XM_011532387.1:c.511C>T | XP_011530689.1:p.Arg171Ter | |
| XM_005263318.4:c.511C>T | XP_005263375.1:p.Arg171Ter | |
| XM_011532387.2:c.511C>T | XP_011530689.1:p.Arg171Ter | |
| NM_003619.4:c.511C>T MANE Select | NP_003610.2:p.Arg171Ter |