Linked Data
dbSNP Id:
rs765204251
ExAC:
1:173873169 G / A
gnomAD v2:
1-173873169-G-A
gnomAD v4:
1-173904031-G-A
COSMIC:
COSM5378479
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904031G>A , CM000663.2:g.173904031G>A | GRCh38 |
| NC_000001.10:g.173873169G>A , CM000663.1:g.173873169G>A | GRCh37 |
| NC_000001.9:g.172139792G>A | NCBI36 |
| NG_012462.1:g.18348C>T , LRG_577:g.18348C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1253C>T MANE Select | ENSP00000356671.3:p.Thr418Ile | |
| ENST00000367698.3:c.1253C>T | ENSP00000356671.3:p.Thr418Ile | |
| ENST00000617423.4:c.638C>T | ENSP00000478688.1:p.Thr213Ile | |
| NM_000488.3:c.1253C>T , LRG_577t1:c.1253C>T | NP_000479.1:p.Thr418Ile | |
| XM_005245198.2:c.1109C>T | XP_005245255.1:p.Thr370Ile | |
| NM_001365052.1:c.1109C>T | NP_001351981.1:p.Thr370Ile | |
| NM_000488.4:c.1253C>T MANE Select | NP_000479.1:p.Thr418Ile | |
| NM_001365052.2:c.1109C>T | NP_001351981.1:p.Thr370Ile | |
| NM_001386302.1:c.1376C>T | NP_001373231.1:p.Thr459Ile | |
| NM_001386303.1:c.1334C>T | NP_001373232.1:p.Thr445Ile | |
| NM_001386304.1:c.1232C>T | NP_001373233.1:p.Thr411Ile | |
| NM_001386305.1:c.1196C>T | NP_001373234.1:p.Thr399Ile | |
| NM_001386306.1:c.1037C>T | NP_001373235.1:p.Thr346Ile |