Linked Data
dbSNP Id:
rs368673100
ExAC:
3:184971715 T / A
gnomAD v2:
3-184971715-T-A
gnomAD v3:
3-185253927-T-A
gnomAD v4:
3-185253927-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185253927T>A , CM000665.2:g.185253927T>A | GRCh38 |
| NC_000003.11:g.184971715T>A , CM000665.1:g.184971715T>A | GRCh37 |
| NC_000003.10:g.186454409T>A | NCBI36 |
| NG_015999.1:g.5172A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231887.8:c.74+22A>T MANE Select | ENSP00000231887.3:n.74+22A>T | |
| ENST00000231887.7:c.74+22A>T | ENSP00000231887.3:n.74+22A>T | |
| ENST00000440662.1:c.74+22A>T | ENSP00000396798.1:n.74+22A>T | |
| ENST00000456310.5:c.-316A>T | ENSP00000387746.1:n.-316A>T | |
| ENST00000465178.1:n.228-5410A>T | ||
| ENST00000475987.1:n.101+22A>T | ||
| NM_001166415.1:c.-316A>T | NP_001159887.1:n.-316A>T | |
| NM_001966.3:c.74+22A>T | NP_001957.2:n.74+22A>T | |
| XM_006713525.1:c.-582+22A>T | XP_006713588.1:n.-582+22A>T | |
| XM_011512517.1:c.-214-5410A>T | XP_011510819.1:n.-214-5410A>T | |
| NM_001966.4:c.74+22A>T MANE Select | NP_001957.2:n.74+22A>T | |
| NM_001166415.2:c.-316A>T | NP_001159887.1:n.-316A>T |