Linked Data
dbSNP Id:
rs767294488
ExAC:
9:117170295 T / A
gnomAD v2:
9-117170295-T-A
gnomAD v4:
9-114408015-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114408015T>A , CM000671.2:g.114408015T>A | GRCh38 |
| NC_000009.11:g.117170295T>A , CM000671.1:g.117170295T>A | GRCh37 |
| NC_000009.10:g.116210116T>A | NCBI36 |
| NG_016700.1:g.102442A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362057.4:c.1630A>T MANE Select | ENSP00000354623.3:p.Thr544Ser | |
| ENST00000673811.1:n.2354A>T | ||
| ENST00000674036.8:c.603A>T | ||
| ENST00000674048.1:n.1511A>T | ||
| ENST00000265134.10:c.481A>T | ENSP00000265134.6:p.Thr161Ser | |
| ENST00000362057.3:c.1630A>T | ENSP00000354623.3:p.Thr544Ser | |
| ENST00000374059.7:c.577A>T | ENSP00000363172.3:p.Thr193Ser | |
| NM_001083885.2:c.481A>T | NP_001077354.2:p.Thr161Ser | |
| NM_001173425.1:c.1630A>T | NP_001166896.1:p.Thr544Ser | |
| NM_015404.3:c.1630A>T | NP_056219.3:p.Thr544Ser | |
| XM_005251897.3:c.967A>T | XP_005251954.2:p.Thr323Ser | |
| XM_011518484.1:c.1663A>T | XP_011516786.1:p.Thr555Ser | |
| XM_011518485.1:c.1663A>T | XP_011516787.1:p.Thr555Ser | |
| XM_011518486.1:c.1663A>T | XP_011516788.1:p.Thr555Ser | |
| XM_011518487.1:c.1537A>T | XP_011516789.1:p.Thr513Ser | |
| XM_011518488.1:c.1420A>T | XP_011516790.1:p.Thr474Ser | |
| XM_011518492.1:c.*15A>T | XP_011516794.1:n.*15A>T | |
| XM_011518495.1:c.340A>T | XP_011516797.1:p.Thr114Ser | |
| XR_929747.1:n.2567A>T | ||
| XR_929748.1:n.2465A>T | ||
| XR_929750.1:n.2566A>T | ||
| XR_929751.1:n.2473A>T | ||
| XR_929757.1:n.2440A>T | ||
| NM_001346890.1:c.577A>T | NP_001333819.1:p.Thr193Ser | |
| XM_011518486.2:c.1663A>T | XP_011516788.1:p.Thr555Ser | |
| XM_011518487.2:c.1537A>T | XP_011516789.1:p.Thr513Ser | |
| XM_011518488.2:c.1420A>T | XP_011516790.1:p.Thr474Ser | |
| XM_011518492.2:c.*15A>T | XP_011516794.1:n.*15A>T | |
| XR_929747.2:n.1878A>T | ||
| XR_929748.2:n.1776A>T | ||
| XR_929750.3:n.1877A>T | ||
| XR_929757.2:n.1751A>T | ||
| NM_015404.4:c.1630A>T MANE Select | NP_056219.3:p.Thr544Ser | |
| NM_001173425.2:c.1630A>T | NP_001166896.1:p.Thr544Ser | |
| NM_001083885.3:c.481A>T | NP_001077354.2:p.Thr161Ser |