Linked Data
dbSNP Id:
rs368586812
gnomAD v2:
1-173873082-A-T
gnomAD v3:
1-173903944-A-T
gnomAD v4:
1-173903944-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903944A>T , CM000663.2:g.173903944A>T | GRCh38 |
| NC_000001.10:g.173873082A>T , CM000663.1:g.173873082A>T | GRCh37 |
| NC_000001.9:g.172139705A>T | NCBI36 |
| NG_012462.1:g.18435T>A , LRG_577:g.18435T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1340T>A MANE Select | ENSP00000356671.3:p.Val447Asp | |
| ENST00000367698.3:c.1340T>A | ENSP00000356671.3:p.Val447Asp | |
| ENST00000617423.4:c.725T>A | ENSP00000478688.1:p.Val242Asp | |
| NM_000488.3:c.1340T>A , LRG_577t1:c.1340T>A | NP_000479.1:p.Val447Asp | |
| XM_005245198.2:c.1196T>A | XP_005245255.1:p.Val399Asp | |
| NM_001365052.1:c.1196T>A | NP_001351981.1:p.Val399Asp | |
| NM_000488.4:c.1340T>A MANE Select | NP_000479.1:p.Val447Asp | |
| NM_001365052.2:c.1196T>A | NP_001351981.1:p.Val399Asp | |
| NM_001386302.1:c.1463T>A | NP_001373231.1:p.Val488Asp | |
| NM_001386303.1:c.1421T>A | NP_001373232.1:p.Val474Asp | |
| NM_001386304.1:c.1319T>A | NP_001373233.1:p.Val440Asp | |
| NM_001386305.1:c.1283T>A | NP_001373234.1:p.Val428Asp | |
| NM_001386306.1:c.1124T>A | NP_001373235.1:p.Val375Asp |