Linked Data
dbSNP Id:
rs758381619
ExAC:
12:105583832 G / A
gnomAD v2:
12-105583832-G-A
gnomAD v4:
12-105190054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105190054G>A , CM000674.2:g.105190054G>A | GRCh38 |
| NC_000012.11:g.105583832G>A , CM000674.1:g.105583832G>A | GRCh37 |
| NC_000012.10:g.104107962G>A | NCBI36 |
| NG_030419.1:g.51177C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258530.8:c.1343C>T MANE Select | ENSP00000258530.3:p.Thr448Met | |
| ENST00000258530.7:c.1343C>T | ENSP00000258530.3:p.Thr448Met | |
| ENST00000539978.6:c.1214C>T | ENSP00000444472.2:p.Thr405Met | |
| ENST00000547439.5:c.*628C>T | ENSP00000449410.1:n.*628C>T | |
| ENST00000547809.5:n.1353C>T | ||
| ENST00000551662.5:c.1361C>T | ENSP00000446917.1:p.Thr454Met | |
| ENST00000552945.1:n.118C>T | ||
| NM_001251904.1:c.1361C>T | NP_001238833.1:p.Thr454Met | |
| NM_001251905.1:c.1214C>T | NP_001238834.1:p.Thr405Met | |
| NM_018171.3:c.1343C>T | NP_060641.2:p.Thr448Met | |
| XM_006719472.1:c.1361C>T | XP_006719535.1:p.Thr454Met | |
| XM_011538530.1:c.1322C>T | XP_011536832.1:p.Thr441Met | |
| XM_011538531.1:c.1232C>T | XP_011536833.1:p.Thr411Met | |
| XM_011538532.1:c.1232C>T | XP_011536834.1:p.Thr411Met | |
| XM_011538530.3:c.1322C>T | XP_011536832.1:p.Thr441Met | |
| XM_011538531.3:c.1232C>T | XP_011536833.1:p.Thr411Met | |
| XM_011538532.3:c.1232C>T | XP_011536834.1:p.Thr411Met | |
| XM_017019551.2:c.1304C>T | XP_016875040.1:p.Thr435Met | |
| XM_017019552.2:c.1214C>T | XP_016875041.1:p.Thr405Met | |
| XM_017019553.2:c.1214C>T | XP_016875042.1:p.Thr405Met | |
| XM_017019554.1:c.1343C>T | XP_016875043.1:p.Thr448Met | |
| XR_001748795.1:n.1523C>T | ||
| XR_001748796.1:n.1505C>T | ||
| NM_018171.4:c.1343C>T | NP_060641.2:p.Thr448Met | |
| NM_018171.5:c.1343C>T MANE Select | NP_060641.2:p.Thr448Met | |
| NM_001251904.2:c.1361C>T | NP_001238833.1:p.Thr454Met | |
| NM_001251905.2:c.1214C>T | NP_001238834.1:p.Thr405Met |