Linked Data
dbSNP Id:
rs375254430
ExAC:
5:148207268 G / A
gnomAD v2:
5-148207268-G-A
gnomAD v4:
5-148827705-G-A
COSMIC:
COSM736437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827705G>A , CM000667.2:g.148827705G>A | GRCh38 |
| NC_000005.9:g.148207268G>A , CM000667.1:g.148207268G>A | GRCh37 |
| NC_000005.8:g.148187461G>A | NCBI36 |
| NG_016421.1:g.6113G>A | |
| NG_016421.2:g.6113G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.874G>A MANE Select | ENSP00000305372.4:p.Val292Ile | |
| ENST00000305988.5:c.874G>A | ENSP00000305372.4:p.Val292Ile | |
| NM_000024.5:c.874G>A | NP_000015.1:p.Val292Ile | |
| NM_000024.6:c.874G>A MANE Select | NP_000015.2:p.Val292Ile |