Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49691314C>T , CM000685.2:g.49691314C>T | GRCh38 |
| NC_000023.10:g.49455917C>T , CM000685.1:g.49455917C>T | GRCh37 |
| NC_000023.9:g.49342621C>T | NCBI36 |
| NG_012550.1:g.9680G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376150.4:c.227G>A MANE Select | ENSP00000365320.3:p.Gly76Glu | |
| ENST00000376150.3:c.227G>A | ENSP00000365320.3:p.Gly76Glu | |
| NM_003785.3:c.227G>A | NP_003776.2:p.Gly76Glu | |
| XM_011543998.1:c.227G>A | XP_011542300.1:p.Gly76Glu | |
| XM_011543999.1:c.227G>A | XP_011542301.1:p.Gly76Glu | |
| XM_011543998.2:c.227G>A | XP_011542300.1:p.Gly76Glu | |
| NM_003785.4:c.227G>A MANE Select | NP_003776.2:p.Gly76Glu |