Linked Data
dbSNP Id:
rs747544637
ExAC:
19:18896627 A / T
gnomAD v2:
19-18896627-A-T
gnomAD v4:
19-18785817-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785817A>T , CM000681.2:g.18785817A>T | GRCh38 |
| NC_000019.9:g.18896627A>T , CM000681.1:g.18896627A>T | GRCh37 |
| NC_000019.8:g.18757627A>T | NCBI36 |
| NG_007070.1:g.10488T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1524T>A MANE Select | ENSP00000222271.2:p.Phe508Leu | |
| ENST00000222271.6:c.1524T>A | ENSP00000222271.2:p.Phe508Leu | |
| ENST00000425807.1:c.1365T>A | ENSP00000403792.1:p.Phe455Leu | |
| ENST00000542601.6:c.1425T>A | ENSP00000439156.2:p.Phe475Leu | |
| NM_000095.2:c.1524T>A | NP_000086.2:p.Phe508Leu | |
| NM_000095.3:c.1524T>A MANE Select | NP_000086.2:p.Phe508Leu |