Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47745566G>A , CM000681.2:g.47745566G>A | GRCh38 |
| NC_000019.9:g.48248823G>A , CM000681.1:g.48248823G>A | GRCh37 |
| NC_000019.8:g.52940635G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015710.5:c.7G>A MANE Select | NP_056525.2:p.Ala3Thr |
| ENST00000246802.10:c.7G>A MANE Select | ENSP00000246802.4:p.Ala3Thr |
| NM_015710.4:c.7G>A | NP_056525.2:p.Ala3Thr |
| ENST00000246802.9:c.7G>A | ENSP00000246802.4:p.Ala3Thr |
| ENST00000594525.5:n.16G>A | |
| ENST00000598681.5:n.2G>A | |
| ENST00000600410.5:n.2G>A |