Linked Data
ClinVar Variation Id:
953963
ClinVar RCV Id:
RCV001226338
dbSNP Id:
rs143741652
ExAC:
6:24528267 G / A
gnomAD v2:
6-24528267-G-A
gnomAD v3:
6-24528039-G-A
gnomAD v4:
6-24528039-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24528039G>A , CM000668.2:g.24528039G>A | GRCh38 |
| NC_000006.11:g.24528267G>A , CM000668.1:g.24528267G>A | GRCh37 |
| NC_000006.10:g.24636246G>A | NCBI36 |
| NG_008161.1:g.38071G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1216G>A MANE Select | ENSP00000350191.3:p.Val406Ile | |
| ENST00000479394.2:n.331G>A | ||
| ENST00000672352.1:c.835G>A | ENSP00000500876.1:p.Val279Ile | |
| ENST00000672652.1:c.1179G>A | ||
| ENST00000348925.2:c.1255G>A | ENSP00000314649.3:p.Val419Ile | |
| ENST00000357578.7:c.1216G>A | ENSP00000350191.3:p.Val406Ile | |
| ENST00000479394.1:n.331G>A | ||
| ENST00000491546.5:c.1132G>A | ENSP00000417687.1:p.Val378Ile | |
| NM_001080.3:c.1216G>A MANE Select | NP_001071.1:p.Val406Ile | |
| NM_170740.1:c.1255G>A | NP_733936.1:p.Val419Ile | |
| NM_001368954.1:c.1072G>A | NP_001355883.1:p.Val358Ile |