Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32997672G>C , CM000682.2:g.32997672G>C | GRCh38 |
| NC_000020.10:g.31585478G>C , CM000682.1:g.31585478G>C | GRCh37 |
| NC_000020.9:g.31049139G>C | NCBI36 |
| NG_054760.1:g.11778C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080675.4:c.356C>G MANE Select | NP_542406.2:p.Ser119Cys |
| ENST00000356173.8:c.356C>G MANE Select | ENSP00000348496.3:p.Ser119Cys |
| NM_080675.3:c.356C>G | NP_542406.2:p.Ser119Cys |
| ENST00000356173.7:c.356C>G | ENSP00000348496.3:p.Ser119Cys |
| ENST00000375523.7:c.281C>G | ENSP00000364673.3:p.Ser94Cys |
| XM_011528573.1:c.425C>G | XP_011526875.1:p.Ser142Cys |
| XM_011528574.1:c.281C>G | XP_011526876.1:p.Ser94Cys |
| XM_011528575.1:c.86C>G | XP_011526877.1:p.Ser29Cys |
| XM_011528576.1:c.425C>G | XP_011526878.1:p.Ser142Cys |