Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10640858G>A , CM000682.2:g.10640858G>A | GRCh38 |
| NC_000020.10:g.10621506G>A , CM000682.1:g.10621506G>A | GRCh37 |
| NC_000020.9:g.10569506G>A | NCBI36 |
| NG_007496.1:g.38189C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.3124C>T MANE Select | NP_000205.1:p.Arg1042Cys |
| ENST00000254958.10:c.3124C>T MANE Select | ENSP00000254958.4:p.Arg1042Cys |
| NM_000214.2:c.3124C>T | NP_000205.1:p.Arg1042Cys |
| ENST00000254958.9:c.3124C>T | ENSP00000254958.4:p.Arg1042Cys |
| ENST00000423891.6:n.2990C>T | |
| ENST00000617357.1:n.419C>T |