Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29489967C>G , CM000684.2:g.29489967C>G | GRCh38 |
| NC_000022.10:g.29885956C>G , CM000684.1:g.29885956C>G | GRCh37 |
| NC_000022.9:g.28215956C>G | NCBI36 |
| NG_008404.1:g.14776C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021076.4:c.2327C>G MANE Select | NP_066554.2:p.Ser776Cys |
| ENST00000310624.7:c.2327C>G MANE Select | ENSP00000311997.6:p.Ser776Cys |
| NM_021076.3:c.2327C>G | NP_066554.2:p.Ser776Cys |
| ENST00000310624.6:c.2327C>G | ENSP00000311997.6:p.Ser776Cys |
| XM_011530200.1:c.2039C>G | XP_011528502.1:p.Ser680Cys |
| XM_011530200.2:c.2039C>G | XP_011528502.1:p.Ser680Cys |