Linked Data
dbSNP Id:
rs764455436
ExAC:
1:173878908 G / A
gnomAD v2:
1-173878908-G-A
gnomAD v4:
1-173909770-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909770G>A , CM000663.2:g.173909770G>A | GRCh38 |
| NC_000001.10:g.173878908G>A , CM000663.1:g.173878908G>A | GRCh37 |
| NC_000001.9:g.172145531G>A | NCBI36 |
| NG_012462.1:g.12609C>T , LRG_577:g.12609C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.935C>T MANE Select | ENSP00000356671.3:p.Thr312Ile | |
| ENST00000367698.3:c.935C>T | ENSP00000356671.3:p.Thr312Ile | |
| ENST00000487183.1:n.586C>T | ||
| ENST00000617423.4:c.559+2094C>T | ENSP00000478688.1:n.559+2094C>T | |
| NM_000488.3:c.935C>T , LRG_577t1:c.935C>T | NP_000479.1:p.Thr312Ile | |
| XM_005245198.2:c.791C>T | XP_005245255.1:p.Thr264Ile | |
| NM_001365052.1:c.791C>T | NP_001351981.1:p.Thr264Ile | |
| NM_000488.4:c.935C>T MANE Select | NP_000479.1:p.Thr312Ile | |
| NM_001365052.2:c.791C>T | NP_001351981.1:p.Thr264Ile | |
| NM_001386302.1:c.1058C>T | NP_001373231.1:p.Thr353Ile | |
| NM_001386303.1:c.1016C>T | NP_001373232.1:p.Thr339Ile | |
| NM_001386304.1:c.914C>T | NP_001373233.1:p.Thr305Ile | |
| NM_001386305.1:c.878C>T | NP_001373234.1:p.Thr293Ile | |
| NM_001386306.1:c.719C>T | NP_001373235.1:p.Thr240Ile |