Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10641181C>T , CM000682.2:g.10641181C>T | GRCh38 |
| NC_000020.10:g.10621829C>T , CM000682.1:g.10621829C>T | GRCh37 |
| NC_000020.9:g.10569829C>T | NCBI36 |
| NG_007496.1:g.37866G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2980G>A MANE Select | NP_000205.1:p.Ala994Thr |
| ENST00000254958.10:c.2980G>A MANE Select | ENSP00000254958.4:p.Ala994Thr |
| NM_000214.2:c.2980G>A | NP_000205.1:p.Ala994Thr |
| ENST00000254958.9:c.2980G>A | ENSP00000254958.4:p.Ala994Thr |
| ENST00000423891.6:n.2846G>A | |
| ENST00000617357.1:n.96G>A |