Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10641532G>T , CM000682.2:g.10641532G>T | GRCh38 |
| NC_000020.10:g.10622180G>T , CM000682.1:g.10622180G>T | GRCh37 |
| NC_000020.9:g.10570180G>T | NCBI36 |
| NG_007496.1:g.37515C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2844C>A MANE Select | ENSP00000254958.4:p.Cys948Ter | |
| ENST00000254958.9:c.2844C>A | ENSP00000254958.4:p.Cys948Ter | |
| ENST00000423891.6:n.2710C>A | ||
| NM_000214.2:c.2844C>A | NP_000205.1:p.Cys948Ter | |
| NM_000214.3:c.2844C>A MANE Select | NP_000205.1:p.Cys948Ter |