Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539732C>G , CM000663.2:g.100539732C>G | GRCh38 |
| NC_000001.10:g.101005288C>G , CM000663.1:g.101005288C>G | GRCh37 |
| NC_000001.9:g.100777876C>G | NCBI36 |
| NG_053134.1:g.6561C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.766C>G MANE Select | ENSP00000314223.4:p.Pro256Ala | |
| ENST00000315033.4:c.766C>G | ENSP00000314223.4:p.Pro256Ala | |
| NM_022049.2:c.766C>G | NP_071332.2:p.Pro256Ala | |
| NM_022049.3:c.766C>G MANE Select | NP_071332.2:p.Pro256Ala |