Linked Data
dbSNP Id:
rs1437440717
gnomAD v2:
1-173878725-A-T
gnomAD v3:
1-173909587-A-T
gnomAD v4:
1-173909587-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909587A>T , CM000663.2:g.173909587A>T | GRCh38 |
| NC_000001.10:g.173878725A>T , CM000663.1:g.173878725A>T | GRCh37 |
| NC_000001.9:g.172145348A>T | NCBI36 |
| NG_012462.1:g.12792T>A , LRG_577:g.12792T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1118T>A MANE Select | ENSP00000356671.3:p.Val373Asp | |
| ENST00000367698.3:c.1118T>A | ENSP00000356671.3:p.Val373Asp | |
| ENST00000617423.4:c.560-2094T>A | ENSP00000478688.1:n.560-2094T>A | |
| NM_000488.3:c.1118T>A , LRG_577t1:c.1118T>A | NP_000479.1:p.Val373Asp | |
| XM_005245198.2:c.974T>A | XP_005245255.1:p.Val325Asp | |
| NM_001365052.1:c.974T>A | NP_001351981.1:p.Val325Asp | |
| NM_000488.4:c.1118T>A MANE Select | NP_000479.1:p.Val373Asp | |
| NM_001365052.2:c.974T>A | NP_001351981.1:p.Val325Asp | |
| NM_001386302.1:c.1241T>A | NP_001373231.1:p.Val414Asp | |
| NM_001386303.1:c.1199T>A | NP_001373232.1:p.Val400Asp | |
| NM_001386304.1:c.1097T>A | NP_001373233.1:p.Val366Asp | |
| NM_001386305.1:c.1061T>A | NP_001373234.1:p.Val354Asp | |
| NM_001386306.1:c.902T>A | NP_001373235.1:p.Val301Asp |