Linked Data
ClinVar Variation Id:
516308
dbSNP Id:
rs114443105
ExAC:
6:158567861 G / A
gnomAD v2:
6-158567861-G-A
gnomAD v3:
6-158146829-G-A
gnomAD v4:
6-158146829-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158146829G>A , CM000668.2:g.158146829G>A | GRCh38 |
| NC_000006.11:g.158567861G>A , CM000668.1:g.158567861G>A | GRCh37 |
| NC_000006.10:g.158487849G>A | NCBI36 |
| NG_032889.1:g.26452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*274C>T | ENSP00000475855.1:n.*274C>T | |
| ENST00000642244.1:c.350C>T | ENSP00000493554.1:p.Thr117Met | |
| ENST00000642903.1:c.440C>T | ENSP00000493559.1:p.Thr147Met | |
| ENST00000644972.1:c.440C>T | ENSP00000496451.1:p.Thr147Met | |
| ENST00000645077.1:c.*274C>T | ENSP00000496113.1:n.*274C>T | |
| ENST00000645172.1:c.*189+2036C>T | ENSP00000495367.1:n.*189+2036C>T | |
| ENST00000646190.1:n.1671C>T | ||
| ENST00000646208.1:c.176C>T | ENSP00000493723.1:p.Thr59Met | |
| ENST00000646410.1:c.311C>T | ENSP00000494205.1:p.Thr104Met | |
| ENST00000646562.1:c.*274C>T | ENSP00000496087.1:n.*274C>T | |
| ENST00000647468.2:c.440C>T MANE Select | ENSP00000496731.1:p.Thr147Met | |
| ENST00000648111.1:c.*84C>T | ENSP00000497275.1:n.*84C>T | |
| ENST00000367101.5:c.440C>T | ENSP00000356068.1:p.Thr147Met | |
| ENST00000367104.7:c.440C>T | ENSP00000356071.3:p.Thr147Met | |
| ENST00000606965.5:c.440C>T | ENSP00000475808.1:p.Thr147Met | |
| ENST00000607000.1:c.440C>T | ENSP00000475788.1:p.Thr147Met | |
| ENST00000607071.5:c.*274C>T | ENSP00000475855.1:n.*274C>T | |
| ENST00000607742.5:c.*274C>T | ENSP00000475523.1:n.*274C>T | |
| NM_032861.3:c.440C>T | NP_116250.3:p.Thr147Met | |
| NR_073096.1:n.582C>T | ||
| XM_006715586.1:c.230C>T | XP_006715649.1:p.Thr77Met | |
| XM_011536196.1:c.419C>T | XP_011534498.1:p.Thr140Met | |
| XM_011536197.1:c.440C>T | XP_011534499.1:p.Thr147Met | |
| XM_011536198.1:c.230C>T | XP_011534500.1:p.Thr77Met | |
| XR_942606.1:n.441C>T | ||
| XM_006715586.3:c.230C>T | XP_006715649.1:p.Thr77Met | |
| XM_011536196.3:c.419C>T | XP_011534498.1:p.Thr140Met | |
| XM_011536198.3:c.230C>T | XP_011534500.1:p.Thr77Met | |
| XM_024446573.1:c.440C>T | XP_024302341.1:p.Thr147Met | |
| XR_001743697.2:n.521C>T | ||
| XR_942606.2:n.572C>T | ||
| NM_032861.4:c.440C>T MANE Select | NP_116250.3:p.Thr147Met | |
| NR_073096.2:n.564C>T |