Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180230309G>A , CM000663.2:g.180230309G>A | GRCh38 |
| NC_000001.10:g.180199444G>A , CM000663.1:g.180199444G>A | GRCh37 |
| NC_000001.9:g.178466067G>A | NCBI36 |
| NG_008081.1:g.5003G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033343.4:c.-221G>A MANE Select | NP_203129.1:n.-221G>A |
| ENST00000263726.4:c.-221G>A MANE Select | ENSP00000263726.2:n.-221G>A |
| NM_033343.3:c.-221G>A | NP_203129.1:n.-221G>A |
| ENST00000263726.3:c.-221G>A | ENSP00000263726.2:n.-221G>A |
| ENST00000558139.1:n.12G>A | |
| XM_011510105.1:c.-108+1396G>A | XP_011508407.1:n.-108+1396G>A |
| XM_011510105.2:c.-108+1396G>A | XP_011508407.1:n.-108+1396G>A |
| XM_011510106.1:c.-108+1156G>A | XP_011508408.1:n.-108+1156G>A |
| XM_011510106.3:c.-108+1156G>A | XP_011508408.1:n.-108+1156G>A |