Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26622623G>A , CM000684.2:g.26622623G>A | GRCh38 |
| NC_000022.10:g.27018587G>A , CM000684.1:g.27018587G>A | GRCh37 |
| NC_000022.9:g.25348587G>A | NCBI36 |
| NG_009825.1:g.5660G>A | |
| NG_009826.1:g.405C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001886.3:c.27G>A MANE Select | NP_001877.1:p.Ala9= |
| ENST00000354760.4:c.27G>A MANE Select | ENSP00000346805.3:p.Ala9= |
| NM_001886.2:c.27G>A | NP_001877.1:p.Ala9= |
| ENST00000354760.3:c.27G>A | ENSP00000346805.3:p.Ala9= |
| ENST00000466315.1:n.43G>A | |
| XM_006724140.2:c.42G>A | XP_006724203.1:p.Ala14= |
| XM_006724140.3:c.42G>A | XP_006724203.1:p.Ala14= |
| XM_011529898.1:c.141G>A | XP_011528200.1:p.Ala47= |
| XM_017028598.1:c.60G>A | XP_016884087.1:p.Ala20= |