Linked Data
dbSNP Id:
rs761374219
ExAC:
3:184971758 T / G
gnomAD v2:
3-184971758-T-G
gnomAD v4:
3-185253970-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185253970T>G , CM000665.2:g.185253970T>G | GRCh38 |
| NC_000003.11:g.184971758T>G , CM000665.1:g.184971758T>G | GRCh37 |
| NC_000003.10:g.186454452T>G | NCBI36 |
| NG_015999.1:g.5129A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231887.8:c.53A>C MANE Select | ENSP00000231887.3:p.Asn18Thr | |
| ENST00000231887.7:c.53A>C | ENSP00000231887.3:p.Asn18Thr | |
| ENST00000440662.1:c.53A>C | ENSP00000396798.1:p.Asn18Thr | |
| ENST00000456310.5:c.-359A>C | ENSP00000387746.1:n.-359A>C | |
| ENST00000465178.1:n.228-5453A>C | ||
| ENST00000475987.1:n.80A>C | ||
| NM_001166415.1:c.-359A>C | NP_001159887.1:n.-359A>C | |
| NM_001966.3:c.53A>C | NP_001957.2:p.Asn18Thr | |
| XM_006713525.1:c.-603A>C | XP_006713588.1:n.-603A>C | |
| XM_011512517.1:c.-214-5453A>C | XP_011510819.1:n.-214-5453A>C | |
| NM_001966.4:c.53A>C MANE Select | NP_001957.2:p.Asn18Thr | |
| NM_001166415.2:c.-359A>C | NP_001159887.1:n.-359A>C |