Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10650292T>A , CM000682.2:g.10650292T>A | GRCh38 |
| NC_000020.10:g.10630940T>A , CM000682.1:g.10630940T>A | GRCh37 |
| NC_000020.9:g.10578940T>A | NCBI36 |
| NG_007496.1:g.28755A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1189A>T MANE Select | NP_000205.1:p.Lys397Ter |
| ENST00000254958.10:c.1189A>T MANE Select | ENSP00000254958.4:p.Lys397Ter |
| NM_000214.2:c.1189A>T | NP_000205.1:p.Lys397Ter |
| ENST00000254958.9:c.1189A>T | ENSP00000254958.4:p.Lys397Ter |
| ENST00000423891.6:n.1055A>T | |
| ENST00000617965.2:n.1778A>T |