Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10647030G>C , CM000682.2:g.10647030G>C | GRCh38 |
| NC_000020.10:g.10627678G>C , CM000682.1:g.10627678G>C | GRCh37 |
| NC_000020.9:g.10575678G>C | NCBI36 |
| NG_007496.1:g.32017C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1794C>G MANE Select | NP_000205.1:p.Val598= |
| ENST00000254958.10:c.1794C>G MANE Select | ENSP00000254958.4:p.Val598= |
| NM_000214.2:c.1794C>G | NP_000205.1:p.Val598= |
| ENST00000254958.9:c.1794C>G | ENSP00000254958.4:p.Val598= |
| ENST00000423891.6:n.1660C>G | |
| ENST00000612857.1:n.283C>G | |
| ENST00000613518.1:c.143C>G | |
| ENST00000617965.2:n.2383C>G |