Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.28863085C>G , CM000663.2:g.28863085C>G | GRCh38 |
| NC_000001.10:g.29189597C>G , CM000663.1:g.29189597C>G | GRCh37 |
| NC_000001.9:g.29062184C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000911.4:c.921C>G MANE Select | NP_000902.3:p.Gly307= |
| ENST00000234961.7:c.921C>G MANE Select | ENSP00000234961.2:p.Gly307= |
| NM_000911.3:c.921C>G | NP_000902.3:p.Gly307= |
| ENST00000234961.6:c.921C>G | ENSP00000234961.2:p.Gly307= |
| ENST00000621425.1:c.777C>G | ENSP00000477970.1:p.Gly259= |