Linked Data
ClinVar Variation Id:
2572022
ClinVar RCV Id:
RCV003313728
dbSNP Id:
rs1048744959
gnomAD v2:
5-145719489-G-A
gnomAD v3:
5-146339926-G-A
gnomAD v4:
5-146339926-G-A
COSMIC:
COSM3852419
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339926G>A , CM000667.2:g.146339926G>A | GRCh38 |
| NC_000005.9:g.145719489G>A , CM000667.1:g.145719489G>A | GRCh37 |
| NC_000005.8:g.145699682G>A | NCBI36 |
| NG_011885.1:g.5903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.499G>A MANE Select | ENSP00000495718.1:p.Val167Met | |
| ENST00000230732.4:c.499G>A | ENSP00000230732.4:p.Val167Met | |
| NM_002700.2:c.499G>A | NP_002691.1:p.Val167Met | |
| NM_002700.3:c.499G>A MANE Select | NP_002691.1:p.Val167Met |