Linked Data
dbSNP Id:
rs753079470
ExAC:
12:53701352 G / T
gnomAD v2:
12-53701352-G-T
gnomAD v3:
12-53307568-G-T
gnomAD v4:
12-53307568-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307568G>T , CM000674.2:g.53307568G>T | GRCh38 |
| NC_000012.11:g.53701352G>T , CM000674.1:g.53701352G>T | GRCh37 |
| NC_000012.10:g.51987619G>T | NCBI36 |
| NG_016775.1:g.19061C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1562C>A MANE Select | ENSP00000209873.4:p.Thr521Lys | |
| ENST00000546562.6:n.2626C>A | ||
| ENST00000547238.6:n.2198C>A | ||
| ENST00000547520.6:n.1678C>A | ||
| ENST00000547757.2:c.*480C>A | ENSP00000448020.2:n.*480C>A | |
| ENST00000548931.6:c.997C>A | ENSP00000457518.1:p.His333Asn | |
| ENST00000549450.6:n.1496C>A | ||
| ENST00000672797.1:n.2051C>A | ||
| ENST00000209873.8:c.1562C>A | ENSP00000209873.4:p.Thr521Lys | |
| ENST00000394384.7:c.1463C>A | ENSP00000377908.3:p.Thr488Lys | |
| ENST00000548931.5:c.997C>A | ENSP00000457518.1:p.His333Asn | |
| ENST00000550286.5:c.1190C>A | ENSP00000446885.1:p.Thr397Lys | |
| ENST00000552876.5:n.1905C>A | ||
| NM_001173466.1:c.1463C>A | NP_001166937.1:p.Thr488Lys | |
| NM_015665.5:c.1562C>A | NP_056480.1:p.Thr521Lys | |
| XM_006719617.2:c.1577C>A | XP_006719680.1:p.Thr526Lys | |
| XM_011538777.1:c.1619C>A | XP_011537079.1:p.Thr540Lys | |
| XM_011538778.1:c.1604C>A | XP_011537080.1:p.Thr535Lys | |
| XM_011538779.1:c.1520C>A | XP_011537081.1:p.Thr507Lys | |
| XM_011538780.1:c.1505C>A | XP_011537082.1:p.Thr502Lys | |
| XM_011538781.1:c.953C>A | XP_011537083.1:p.Thr318Lys | |
| XM_011538778.2:c.1604C>A | XP_011537080.1:p.Thr535Lys | |
| XM_011538780.2:c.1505C>A | XP_011537082.1:p.Thr502Lys | |
| XR_001748875.2:n.1619C>A | ||
| NM_015665.6:c.1562C>A MANE Select | NP_056480.1:p.Thr521Lys | |
| NM_001173466.2:c.1463C>A | NP_001166937.1:p.Thr488Lys |