Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89218694C>A , CM000677.2:g.89218694C>A | GRCh38 |
| NC_000015.9:g.89761925C>A , CM000677.1:g.89761925C>A | GRCh37 |
| NC_000015.8:g.87562929C>A | NCBI36 |
| NG_008116.1:g.7998G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000326.5:c.13-1G>T MANE Select | NP_000317.1:n.13-1G>T |
| ENST00000268125.10:c.13-1G>T MANE Select | ENSP00000268125.5:n.13-1G>T |
| NM_000326.4:c.13-1G>T | NP_000317.1:n.13-1G>T |
| ENST00000268125.9:c.13-1G>T | ENSP00000268125.5:n.13-1G>T |
| ENST00000567787.1:c.13-1G>T | ENSP00000457251.1:n.13-1G>T |
| XM_011521870.1:c.13-1G>T | XP_011520172.1:n.13-1G>T |
| XM_011521870.2:c.13-1G>T | XP_011520172.1:n.13-1G>T |
| XM_017022460.1:c.39G>T | XP_016877949.1:p.Gln13His |