Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32983868G>A , CM000682.2:g.32983868G>A | GRCh38 |
| NC_000020.10:g.31571674G>A , CM000682.1:g.31571674G>A | GRCh37 |
| NC_000020.9:g.31035335G>A | NCBI36 |
| NG_054760.1:g.25582C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080675.4:c.1066C>T MANE Select | NP_542406.2:p.Arg356Cys |
| ENST00000356173.8:c.1066C>T MANE Select | ENSP00000348496.3:p.Arg356Cys |
| NM_080675.3:c.1066C>T | NP_542406.2:p.Arg356Cys |
| ENST00000356173.7:c.1066C>T | ENSP00000348496.3:p.Arg356Cys |
| ENST00000375523.7:c.991C>T | ENSP00000364673.3:p.Arg331Cys |
| XM_011528573.1:c.1135C>T | XP_011526875.1:p.Arg379Cys |
| XM_011528574.1:c.991C>T | XP_011526876.1:p.Arg331Cys |
| XM_011528575.1:c.796C>T | XP_011526877.1:p.Arg266Cys |