Linked Data
ClinVar Variation Id:
2520780
ClinVar RCV Id:
RCV004292808
dbSNP Id:
rs753258381
ExAC:
1:36926912 C / T
gnomAD v2:
1-36926912-C-T
gnomAD v3:
1-36461311-C-T
gnomAD v4:
1-36461311-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36461311C>T , CM000663.2:g.36461311C>T | GRCh38 |
| NC_000001.10:g.36926912C>T , CM000663.1:g.36926912C>T | GRCh37 |
| NC_000001.9:g.36699499C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373116.6:c.253G>A MANE Select | ENSP00000362208.5:p.Val85Ile | |
| ENST00000373116.5:c.253G>A | ENSP00000362208.5:p.Val85Ile | |
| ENST00000462067.1:n.65-2185G>A | ||
| NM_031280.3:c.253G>A | NP_112570.2:p.Val85Ile | |
| NM_031280.4:c.253G>A MANE Select | NP_112570.2:p.Val85Ile |