Linked Data
ClinVar Variation Id:
426760
ClinVar RCV Id:
RCV000489146
dbSNP Id:
rs1085307785
gnomAD v2:
11-17793914-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17772367G>A , CM000673.2:g.17772367G>A | GRCh38 |
| NC_000011.9:g.17793914G>A , CM000673.1:g.17793914G>A | GRCh37 |
| NC_000011.8:g.17750490G>A | NCBI36 |
| NG_041827.1:g.41420G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265969.8:c.1273G>A MANE Select | ENSP00000265969.7:p.Val425Met | |
| ENST00000379472.4:c.1273G>A | ENSP00000368785.3:p.Val425Met | |
| ENST00000639325.2:c.1273G>A | ENSP00000492663.2:p.Val425Met | |
| ENST00000639495.1:c.177G>A | ||
| ENST00000640153.1:n.801G>A | ||
| ENST00000640318.2:c.1273G>A | ENSP00000491189.2:p.Val425Met | |
| ENST00000640909.2:c.1273G>A | ENSP00000491644.2:p.Val425Met | |
| ENST00000675775.1:c.1273G>A | ENSP00000502716.1:p.Val425Met | |
| ENST00000265969.6:c.1273G>A | ENSP00000265969.6:p.Val425Met | |
| ENST00000379472.3:c.1273G>A | ENSP00000368785.3:p.Val425Met | |
| NM_001112741.1:c.1273G>A | NP_001106212.1:p.Val425Met | |
| NM_004976.4:c.1273G>A | NP_004967.1:p.Val425Met | |
| XM_011520078.1:c.1273G>A | XP_011518380.1:p.Val425Met | |
| XM_011520079.1:c.1273G>A | XP_011518381.1:p.Val425Met | |
| XM_011520080.1:c.1273G>A | XP_011518382.1:p.Val425Met | |
| XM_011520081.1:c.1273G>A | XP_011518383.1:p.Val425Met | |
| XR_930866.1:n.1366G>A | ||
| XR_930866.2:n.2466G>A | ||
| NM_001112741.2:c.1273G>A MANE Select | NP_001106212.1:p.Val425Met |