Linked Data
dbSNP Id:
rs764087181
ExAC:
3:184971781 G / T
gnomAD v2:
3-184971781-G-T
gnomAD v4:
3-185253993-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185253993G>T , CM000665.2:g.185253993G>T | GRCh38 |
| NC_000003.11:g.184971781G>T , CM000665.1:g.184971781G>T | GRCh37 |
| NC_000003.10:g.186454475G>T | NCBI36 |
| NG_015999.1:g.5106C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231887.8:c.30C>A MANE Select | ENSP00000231887.3:p.Ala10= | |
| ENST00000231887.7:c.30C>A | ENSP00000231887.3:p.Ala10= | |
| ENST00000440662.1:c.30C>A | ENSP00000396798.1:p.Ala10= | |
| ENST00000456310.5:c.-382C>A | ENSP00000387746.1:n.-382C>A | |
| ENST00000465178.1:n.228-5476C>A | ||
| ENST00000475987.1:n.57C>A | ||
| NM_001166415.1:c.-382C>A | NP_001159887.1:n.-382C>A | |
| NM_001966.3:c.30C>A | NP_001957.2:p.Ala10= | |
| XM_006713525.1:c.-626C>A | XP_006713588.1:n.-626C>A | |
| XM_011512517.1:c.-214-5476C>A | XP_011510819.1:n.-214-5476C>A | |
| NM_001966.4:c.30C>A MANE Select | NP_001957.2:p.Ala10= | |
| NM_001166415.2:c.-382C>A | NP_001159887.1:n.-382C>A |