Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10648027G>T , CM000682.2:g.10648027G>T | GRCh38 |
| NC_000020.10:g.10628675G>T , CM000682.1:g.10628675G>T | GRCh37 |
| NC_000020.9:g.10576675G>T | NCBI36 |
| NG_007496.1:g.31020C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1653C>A MANE Select | NP_000205.1:p.Cys551Ter |
| ENST00000254958.10:c.1653C>A MANE Select | ENSP00000254958.4:p.Cys551Ter |
| NM_000214.2:c.1653C>A | NP_000205.1:p.Cys551Ter |
| ENST00000254958.9:c.1653C>A | ENSP00000254958.4:p.Cys551Ter |
| ENST00000423891.6:n.1519C>A | |
| ENST00000613518.1:c.2C>A | |
| ENST00000617965.2:n.2242C>A | |
| ENST00000620743.1:n.710C>A | |
| ENST00000622545.1:c.384C>A |