Linked Data
ClinVar Variation Id:
297579
dbSNP Id:
rs61753389
ExAC:
1:52840559 C / T
gnomAD v2:
1-52840559-C-T
gnomAD v3:
1-52374887-C-T
gnomAD v4:
1-52374887-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52374887C>T , CM000663.2:g.52374887C>T | GRCh38 |
| NC_000001.10:g.52840559C>T , CM000663.1:g.52840559C>T | GRCh37 |
| NC_000001.9:g.52613147C>T | NCBI36 |
| NG_028251.1:g.34585G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371568.8:c.2314G>A MANE Select | ENSP00000360623.3:p.Val772Ile | |
| ENST00000371566.1:c.2314G>A | ENSP00000360621.1:p.Val772Ile | |
| ENST00000371568.7:c.2314G>A | ENSP00000360623.3:p.Val772Ile | |
| NM_001190818.1:c.2314G>A | NP_001177747.1:p.Val772Ile | |
| NM_001190819.1:c.2299G>A | NP_001177748.1:p.Val767Ile | |
| NM_004153.3:c.2314G>A | NP_004144.2:p.Val772Ile | |
| XM_011541527.1:c.1234G>A | XP_011539829.1:p.Val412Ile | |
| XM_011541527.3:c.1234G>A | XP_011539829.1:p.Val412Ile | |
| XM_017001388.2:c.2206G>A | XP_016856877.1:p.Val736Ile | |
| XM_017001389.2:c.1576G>A | XP_016856878.1:p.Val526Ile | |
| NM_004153.4:c.2314G>A MANE Select | NP_004144.2:p.Val772Ile | |
| NM_001190818.2:c.2314G>A | NP_001177747.1:p.Val772Ile | |
| NM_001190819.2:c.2299G>A | NP_001177748.1:p.Val767Ile |