Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10641672A>T , CM000682.2:g.10641672A>T | GRCh38 |
| NC_000020.10:g.10622320A>T , CM000682.1:g.10622320A>T | GRCh37 |
| NC_000020.9:g.10570320A>T | NCBI36 |
| NG_007496.1:g.37375T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2704T>A MANE Select | NP_000205.1:p.Cys902Ser |
| ENST00000254958.10:c.2704T>A MANE Select | ENSP00000254958.4:p.Cys902Ser |
| NM_000214.2:c.2704T>A | NP_000205.1:p.Cys902Ser |
| ENST00000254958.9:c.2704T>A | ENSP00000254958.4:p.Cys902Ser |
| ENST00000423891.6:n.2570T>A | |
| ENST00000617965.2:n.3293T>A |