Linked Data
dbSNP Id:
rs1399342717
gnomAD v2:
12-53701433-A-G
gnomAD v3:
12-53307649-A-G
gnomAD v4:
12-53307649-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307649A>G , CM000674.2:g.53307649A>G | GRCh38 |
| NC_000012.11:g.53701433A>G , CM000674.1:g.53701433A>G | GRCh37 |
| NC_000012.10:g.51987700A>G | NCBI36 |
| NG_016775.1:g.18980T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1481T>C MANE Select | ENSP00000209873.4:p.Phe494Ser | |
| ENST00000546562.6:n.2545T>C | ||
| ENST00000547238.6:n.2117T>C | ||
| ENST00000547520.6:n.1597T>C | ||
| ENST00000547757.2:c.*399T>C | ENSP00000448020.2:n.*399T>C | |
| ENST00000548880.2:n.1931T>C | ||
| ENST00000548931.6:c.916T>C | ENSP00000457518.1:p.Leu306= | |
| ENST00000549450.6:n.1415T>C | ||
| ENST00000552161.6:n.2559T>C | ||
| ENST00000672797.1:n.1970T>C | ||
| ENST00000209873.8:c.1481T>C | ENSP00000209873.4:p.Phe494Ser | |
| ENST00000394384.7:c.1382T>C | ENSP00000377908.3:p.Phe461Ser | |
| ENST00000548931.5:c.916T>C | ENSP00000457518.1:p.Leu306= | |
| ENST00000550286.5:c.1109T>C | ENSP00000446885.1:p.Phe370Ser | |
| ENST00000552876.5:n.1824T>C | ||
| NM_001173466.1:c.1382T>C | NP_001166937.1:p.Phe461Ser | |
| NM_015665.5:c.1481T>C | NP_056480.1:p.Phe494Ser | |
| XM_006719617.2:c.1496T>C | XP_006719680.1:p.Phe499Ser | |
| XM_011538777.1:c.1538T>C | XP_011537079.1:p.Phe513Ser | |
| XM_011538778.1:c.1523T>C | XP_011537080.1:p.Phe508Ser | |
| XM_011538779.1:c.1439T>C | XP_011537081.1:p.Phe480Ser | |
| XM_011538780.1:c.1424T>C | XP_011537082.1:p.Phe475Ser | |
| XM_011538781.1:c.872T>C | XP_011537083.1:p.Phe291Ser | |
| XM_011538778.2:c.1523T>C | XP_011537080.1:p.Phe508Ser | |
| XM_011538780.2:c.1424T>C | XP_011537082.1:p.Phe475Ser | |
| XR_001748875.2:n.1538T>C | ||
| NM_015665.6:c.1481T>C MANE Select | NP_056480.1:p.Phe494Ser | |
| NM_001173466.2:c.1382T>C | NP_001166937.1:p.Phe461Ser |