Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26630322G>A , CM000684.2:g.26630322G>A | GRCh38 |
| NC_000022.10:g.27026286G>A , CM000684.1:g.27026286G>A | GRCh37 |
| NC_000022.9:g.25356286G>A | NCBI36 |
| NG_009825.1:g.13359G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001886.3:c.444-18G>A MANE Select | NP_001877.1:n.444-18G>A |
| ENST00000354760.4:c.444-18G>A MANE Select | ENSP00000346805.3:n.444-18G>A |
| NM_001886.2:c.444-18G>A | NP_001877.1:n.444-18G>A |
| ENST00000354760.3:c.444-18G>A | ENSP00000346805.3:n.444-18G>A |
| ENST00000466315.1:n.341-18G>A | |
| XM_006724140.2:c.459-18G>A | XP_006724203.1:n.459-18G>A |
| XM_006724140.3:c.459-18G>A | XP_006724203.1:n.459-18G>A |
| XM_011529898.1:c.558-18G>A | XP_011528200.1:n.558-18G>A |
| XM_017028598.1:c.477-18G>A | XP_016884087.1:n.477-18G>A |