Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10645382C>T , CM000682.2:g.10645382C>T | GRCh38 |
| NC_000020.10:g.10626030C>T , CM000682.1:g.10626030C>T | GRCh37 |
| NC_000020.9:g.10574030C>T | NCBI36 |
| NG_007496.1:g.33665G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2087G>A MANE Select | NP_000205.1:p.Gly696Glu |
| ENST00000254958.10:c.2087G>A MANE Select | ENSP00000254958.4:p.Gly696Glu |
| NM_000214.2:c.2087G>A | NP_000205.1:p.Gly696Glu |
| ENST00000254958.9:c.2087G>A | ENSP00000254958.4:p.Gly696Glu |
| ENST00000423891.6:n.1953G>A | |
| ENST00000488480.2:n.484G>A | |
| ENST00000612857.1:n.576G>A | |
| ENST00000617965.2:n.2676G>A |