Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89218601G>A , CM000677.2:g.89218601G>A | GRCh38 |
| NC_000015.9:g.89761832G>A , CM000677.1:g.89761832G>A | GRCh37 |
| NC_000015.8:g.87562836G>A | NCBI36 |
| NG_008116.1:g.8091C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000326.5:c.105C>T MANE Select | NP_000317.1:p.Gly35= |
| ENST00000268125.10:c.105C>T MANE Select | ENSP00000268125.5:p.Gly35= |
| NM_000326.4:c.105C>T | NP_000317.1:p.Gly35= |
| ENST00000268125.9:c.105C>T | ENSP00000268125.5:p.Gly35= |
| ENST00000567787.1:c.105C>T | ENSP00000457251.1:p.Gly35= |
| XM_011521870.1:c.105C>T | XP_011520172.1:p.Gly35= |
| XM_011521870.2:c.105C>T | XP_011520172.1:p.Gly35= |
| XM_011521872.1:c.-214C>T | XP_011520174.1:n.-214C>T |
| XM_017022460.1:c.132C>T | XP_016877949.1:p.Gly44= |