Linked Data
ClinVar Variation Id:
12016
ClinVar RCV Id:
RCV000012796
dbSNP Id:
rs111033542
ExAC:
3:136046081 C / T
gnomAD v2:
3-136046081-C-T
gnomAD v3:
3-136327239-C-T
gnomAD v4:
3-136327239-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136327239C>T , CM000665.2:g.136327239C>T | GRCh38 |
| NC_000003.11:g.136046081C>T , CM000665.1:g.136046081C>T | GRCh37 |
| NC_000003.10:g.137528771C>T | NCBI36 |
| NG_008939.1:g.81915C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.1283C>T MANE Select | ENSP00000251654.4:p.Thr428Ile | |
| ENST00000251654.8:c.1283C>T | ENSP00000251654.4:p.Thr428Ile | |
| ENST00000462637.5:c.1214C>T | ENSP00000420391.1:p.Thr405Ile | |
| ENST00000466072.5:c.1343C>T | ENSP00000420158.1:p.Thr448Ile | |
| ENST00000468777.5:c.1376C>T | ENSP00000419129.1:p.Thr459Ile | |
| ENST00000469217.5:c.1343C>T | ENSP00000419027.1:p.Thr448Ile | |
| ENST00000471595.5:c.1283C>T | ENSP00000417549.1:p.Thr428Ile | |
| ENST00000473073.1:n.1484C>T | ||
| ENST00000474833.5:n.823+329C>T | ||
| ENST00000478469.5:c.885-7041C>T | ENSP00000420759.1:n.885-7041C>T | |
| ENST00000482086.5:c.935C>T | ENSP00000417253.1:p.Thr312Ile | |
| ENST00000483687.5:c.1226C>T | ENSP00000420639.1:p.Thr409Ile | |
| ENST00000484181.5:c.1198+329C>T | ENSP00000417937.1:n.1198+329C>T | |
| ENST00000490504.5:c.1112C>T | ENSP00000418307.1:p.Thr371Ile | |
| NM_000532.4:c.1283C>T | NP_000523.2:p.Thr428Ile | |
| NM_001178014.1:c.1343C>T | NP_001171485.1:p.Thr448Ile | |
| NM_000532.5:c.1283C>T MANE Select | NP_000523.2:p.Thr428Ile | |
| NM_001178014.2:c.1343C>T | NP_001171485.1:p.Thr448Ile |