Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10643818G>T , CM000682.2:g.10643818G>T | GRCh38 |
| NC_000020.10:g.10624466G>T , CM000682.1:g.10624466G>T | GRCh37 |
| NC_000020.9:g.10572466G>T | NCBI36 |
| NG_007496.1:g.35229C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2418C>A MANE Select | NP_000205.1:p.Cys806Ter |
| ENST00000254958.10:c.2418C>A MANE Select | ENSP00000254958.4:p.Cys806Ter |
| NM_000214.2:c.2418C>A | NP_000205.1:p.Cys806Ter |
| ENST00000254958.9:c.2418C>A | ENSP00000254958.4:p.Cys806Ter |
| ENST00000423891.6:n.2284C>A | |
| ENST00000617965.2:n.3007C>A |