Linked Data
dbSNP Id:
rs552064073
ExAC:
1:173873167 C / T
gnomAD v2:
1-173873167-C-T
gnomAD v3:
1-173904029-C-T
gnomAD v4:
1-173904029-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904029C>T , CM000663.2:g.173904029C>T | GRCh38 |
| NC_000001.10:g.173873167C>T , CM000663.1:g.173873167C>T | GRCh37 |
| NC_000001.9:g.172139790C>T | NCBI36 |
| NG_012462.1:g.18350G>A , LRG_577:g.18350G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1255G>A MANE Select | ENSP00000356671.3:p.Ala419Thr | |
| ENST00000367698.3:c.1255G>A | ENSP00000356671.3:p.Ala419Thr | |
| ENST00000617423.4:c.640G>A | ENSP00000478688.1:p.Ala214Thr | |
| NM_000488.3:c.1255G>A , LRG_577t1:c.1255G>A | NP_000479.1:p.Ala419Thr | |
| XM_005245198.2:c.1111G>A | XP_005245255.1:p.Ala371Thr | |
| NM_001365052.1:c.1111G>A | NP_001351981.1:p.Ala371Thr | |
| NM_000488.4:c.1255G>A MANE Select | NP_000479.1:p.Ala419Thr | |
| NM_001365052.2:c.1111G>A | NP_001351981.1:p.Ala371Thr | |
| NM_001386302.1:c.1378G>A | NP_001373231.1:p.Ala460Thr | |
| NM_001386303.1:c.1336G>A | NP_001373232.1:p.Ala446Thr | |
| NM_001386304.1:c.1234G>A | NP_001373233.1:p.Ala412Thr | |
| NM_001386305.1:c.1198G>A | NP_001373234.1:p.Ala400Thr | |
| NM_001386306.1:c.1039G>A | NP_001373235.1:p.Ala347Thr |