Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10649562G>T , CM000682.2:g.10649562G>T | GRCh38 |
| NC_000020.10:g.10630210G>T , CM000682.1:g.10630210G>T | GRCh37 |
| NC_000020.9:g.10578210G>T | NCBI36 |
| NG_007496.1:g.29485C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1308C>A MANE Select | NP_000205.1:p.Cys436Ter |
| ENST00000254958.10:c.1308C>A MANE Select | ENSP00000254958.4:p.Cys436Ter |
| NM_000214.2:c.1308C>A | NP_000205.1:p.Cys436Ter |
| ENST00000254958.9:c.1308C>A | ENSP00000254958.4:p.Cys436Ter |
| ENST00000423891.6:n.1174C>A | |
| ENST00000617965.2:n.1897C>A | |
| ENST00000620743.1:n.27C>A | |
| ENST00000622545.1:c.85C>A |