Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10648552A>T , CM000682.2:g.10648552A>T | GRCh38 |
| NC_000020.10:g.10629200A>T , CM000682.1:g.10629200A>T | GRCh37 |
| NC_000020.9:g.10577200A>T | NCBI36 |
| NG_007496.1:g.30495T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1566T>A MANE Select | NP_000205.1:p.Cys522Ter |
| ENST00000254958.10:c.1566T>A MANE Select | ENSP00000254958.4:p.Cys522Ter |
| NM_000214.2:c.1566T>A | NP_000205.1:p.Cys522Ter |
| ENST00000254958.9:c.1566T>A | ENSP00000254958.4:p.Cys522Ter |
| ENST00000423891.6:n.1432T>A | |
| ENST00000617965.2:n.2155T>A | |
| ENST00000620743.1:n.623T>A | |
| ENST00000622545.1:c.297T>A |