Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26622545G>A , CM000684.2:g.26622545G>A | GRCh38 |
| NC_000022.10:g.27018509G>A , CM000684.1:g.27018509G>A | GRCh37 |
| NC_000022.9:g.25348509G>A | NCBI36 |
| NG_009825.1:g.5582G>A | |
| NG_009826.1:g.483C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001886.3:c.-12-40G>A MANE Select | NP_001877.1:n.-12-40G>A |
| ENST00000354760.4:c.-12-40G>A MANE Select | ENSP00000346805.3:n.-12-40G>A |
| NM_001886.2:c.-12-40G>A | NP_001877.1:n.-12-40G>A |
| ENST00000354760.3:c.-12-40G>A | ENSP00000346805.3:n.-12-40G>A |
| ENST00000466315.1:n.5-40G>A | |
| XM_006724140.2:c.4-40G>A | XP_006724203.1:n.4-40G>A |
| XM_006724140.3:c.4-40G>A | XP_006724203.1:n.4-40G>A |
| XM_011529898.1:c.103-40G>A | XP_011528200.1:n.103-40G>A |
| XM_017028598.1:c.22-40G>A | XP_016884087.1:n.22-40G>A |