Linked Data
dbSNP Id:
rs761593129
ExAC:
12:53701432 A / T
gnomAD v2:
12-53701432-A-T
gnomAD v4:
12-53307648-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307648A>T , CM000674.2:g.53307648A>T | GRCh38 |
| NC_000012.11:g.53701432A>T , CM000674.1:g.53701432A>T | GRCh37 |
| NC_000012.10:g.51987699A>T | NCBI36 |
| NG_016775.1:g.18981T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1482T>A MANE Select | ENSP00000209873.4:p.Phe494Leu | |
| ENST00000546562.6:n.2546T>A | ||
| ENST00000547238.6:n.2118T>A | ||
| ENST00000547520.6:n.1598T>A | ||
| ENST00000547757.2:c.*400T>A | ENSP00000448020.2:n.*400T>A | |
| ENST00000548880.2:n.1932T>A | ||
| ENST00000548931.6:c.917T>A | ENSP00000457518.1:p.Leu306Ter | |
| ENST00000549450.6:n.1416T>A | ||
| ENST00000552161.6:n.2560T>A | ||
| ENST00000672797.1:n.1971T>A | ||
| ENST00000209873.8:c.1482T>A | ENSP00000209873.4:p.Phe494Leu | |
| ENST00000394384.7:c.1383T>A | ENSP00000377908.3:p.Phe461Leu | |
| ENST00000548931.5:c.917T>A | ENSP00000457518.1:p.Leu306Ter | |
| ENST00000550286.5:c.1110T>A | ENSP00000446885.1:p.Phe370Leu | |
| ENST00000552876.5:n.1825T>A | ||
| NM_001173466.1:c.1383T>A | NP_001166937.1:p.Phe461Leu | |
| NM_015665.5:c.1482T>A | NP_056480.1:p.Phe494Leu | |
| XM_006719617.2:c.1497T>A | XP_006719680.1:p.Phe499Leu | |
| XM_011538777.1:c.1539T>A | XP_011537079.1:p.Phe513Leu | |
| XM_011538778.1:c.1524T>A | XP_011537080.1:p.Phe508Leu | |
| XM_011538779.1:c.1440T>A | XP_011537081.1:p.Phe480Leu | |
| XM_011538780.1:c.1425T>A | XP_011537082.1:p.Phe475Leu | |
| XM_011538781.1:c.873T>A | XP_011537083.1:p.Phe291Leu | |
| XM_011538778.2:c.1524T>A | XP_011537080.1:p.Phe508Leu | |
| XM_011538780.2:c.1425T>A | XP_011537082.1:p.Phe475Leu | |
| XR_001748875.2:n.1539T>A | ||
| NM_015665.6:c.1482T>A MANE Select | NP_056480.1:p.Phe494Leu | |
| NM_001173466.2:c.1383T>A | NP_001166937.1:p.Phe461Leu |