Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128355649G>A , CM000671.2:g.128355649G>A | GRCh38 |
| NC_000009.11:g.131117928G>A , CM000671.1:g.131117928G>A | GRCh37 |
| NC_000009.10:g.130157749G>A | NCBI36 |
| NG_017057.1:g.20090G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005094.4:c.1628-1G>A MANE Select | NP_005085.2:n.1628-1G>A |
| ENST00000300456.5:c.1628-1G>A MANE Select | ENSP00000300456.3:n.1628-1G>A |
| NM_005094.3:c.1628-1G>A | NP_005085.2:n.1628-1G>A |
| ENST00000300456.4:c.1628-1G>A | ENSP00000300456.3:n.1628-1G>A |
| ENST00000372870.5:c.410-1G>A | ENSP00000361961.1:n.410-1G>A |
| XM_017014222.1:c.1628-1G>A | XP_016869711.1:n.1628-1G>A |
| XM_024447391.1:c.1628-1G>A | XP_024303159.1:n.1628-1G>A |