Linked Data
ClinVar Variation Id:
1662515
ClinVar RCV Id:
RCV002185793
dbSNP Id:
rs1384732217
gnomAD v2:
12-13715858-C-T
gnomAD v4:
12-13562924-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13562924C>T , CM000674.2:g.13562924C>T | GRCh38 |
| NC_000012.11:g.13715858C>T , CM000674.1:g.13715858C>T | GRCh37 |
| NC_000012.10:g.13607125C>T | NCBI36 |
| NG_031854.1:g.422165G>A | |
| NG_031854.2:g.424089G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.4314G>A MANE Select | ENSP00000477455.1:p.Val1438= | |
| ENST00000637214.1:c.69+45679G>A | ENSP00000489997.1:n.69+45679G>A | |
| ENST00000609686.3:c.4314G>A | ENSP00000477455.1:p.Val1438= | |
| ENST00000628166.1:n.2574G>A | ||
| NM_000834.3:c.4314G>A | NP_000825.2:p.Val1438= | |
| XM_005253351.2:c.2100G>A | XP_005253408.1:p.Val700= | |
| XM_011520628.1:c.4314G>A | XP_011518930.1:p.Val1438= | |
| XM_011520629.1:c.4314G>A | XP_011518931.1:p.Val1438= | |
| XM_011520630.1:c.4314G>A | XP_011518932.1:p.Val1438= | |
| NM_000834.4:c.4314G>A | NP_000825.2:p.Val1438= | |
| XM_005253351.3:c.2100G>A | XP_005253408.1:p.Val700= | |
| XM_011520628.2:c.4314G>A | XP_011518930.1:p.Val1438= | |
| XM_011520629.2:c.4314G>A | XP_011518931.1:p.Val1438= | |
| XM_017019219.2:c.4314G>A | XP_016874708.1:p.Val1438= | |
| NM_000834.5:c.4314G>A MANE Select | NP_000825.2:p.Val1438= |