Linked Data
ClinVar Variation Id:
2324153
ClinVar RCV Id:
RCV002911429
dbSNP Id:
rs772164575
ExAC:
5:38481896 G / T
gnomAD v2:
5-38481896-G-T
gnomAD v4:
5-38481794-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38481794G>T , CM000667.2:g.38481794G>T | GRCh38 |
| NC_000005.9:g.38481896G>T , CM000667.1:g.38481896G>T | GRCh37 |
| NC_000005.8:g.38517653G>T | NCBI36 |
| NG_011817.1:g.118612C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453190.7:c.3095C>A MANE Select | ENSP00000398368.2:p.Ala1032Asp | |
| ENST00000263409.8:c.3095C>A | ENSP00000263409.4:p.Ala1032Asp | |
| ENST00000453190.6:c.3095C>A | ENSP00000398368.2:p.Ala1032Asp | |
| NM_001127671.1:c.3095C>A | NP_001121143.1:p.Ala1032Asp | |
| NM_002310.5:c.3095C>A | NP_002301.1:p.Ala1032Asp | |
| XM_011514040.1:c.3095C>A | XP_011512342.1:p.Ala1032Asp | |
| XM_011514041.1:c.3095C>A | XP_011512343.1:p.Ala1032Asp | |
| XM_011514042.1:c.3095C>A | XP_011512344.1:p.Ala1032Asp | |
| NM_001364297.1:c.3095C>A | NP_001351226.1:p.Ala1032Asp | |
| NM_001364298.1:c.3062C>A | NP_001351227.1:p.Ala1021Asp | |
| XM_011514042.3:c.3095C>A | XP_011512344.1:p.Ala1032Asp | |
| XM_017009462.1:c.3149C>A | XP_016864951.1:p.Ala1050Asp | |
| XM_017009463.1:c.3095C>A | XP_016864952.1:p.Ala1032Asp | |
| NM_001127671.2:c.3095C>A MANE Select | NP_001121143.1:p.Ala1032Asp | |
| NM_002310.6:c.3095C>A | NP_002301.1:p.Ala1032Asp | |
| NM_001364297.2:c.3095C>A | NP_001351226.1:p.Ala1032Asp | |
| NM_001364298.2:c.3062C>A | NP_001351227.1:p.Ala1021Asp |