Linked Data
ClinVar Variation Id:
372744
dbSNP Id:
rs750294638
ExAC:
6:121768598 G / A
gnomAD v2:
6-121768598-G-A
gnomAD v4:
6-121447452-G-A
COSMIC:
COSM3857954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447452G>A , CM000668.2:g.121447452G>A | GRCh38 |
| NC_000006.11:g.121768598G>A , CM000668.1:g.121768598G>A | GRCh37 |
| NC_000006.10:g.121810297G>A | NCBI36 |
| NG_008308.1:g.16854G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.605G>A MANE Select | ENSP00000282561.3:p.Arg202His | |
| ENST00000647564.1:c.605G>A | ENSP00000497565.1:p.Arg202His | |
| ENST00000649003.1:c.605G>A | ENSP00000497283.1:p.Arg202His | |
| ENST00000650427.1:c.605G>A | ENSP00000497367.1:p.Arg202His | |
| ENST00000282561.3:c.605G>A | ENSP00000282561.3:p.Arg202His | |
| NM_000165.4:c.605G>A | NP_000156.1:p.Arg202His | |
| NM_000165.5:c.605G>A MANE Select | NP_000156.1:p.Arg202His |