Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10647960C>G , CM000682.2:g.10647960C>G | GRCh38 |
| NC_000020.10:g.10628608C>G , CM000682.1:g.10628608C>G | GRCh37 |
| NC_000020.9:g.10576608C>G | NCBI36 |
| NG_007496.1:g.31087G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1720G>C MANE Select | NP_000205.1:p.Val574Leu |
| ENST00000254958.10:c.1720G>C MANE Select | ENSP00000254958.4:p.Val574Leu |
| NM_000214.2:c.1720G>C | NP_000205.1:p.Val574Leu |
| ENST00000254958.9:c.1720G>C | ENSP00000254958.4:p.Val574Leu |
| ENST00000423891.6:n.1586G>C | |
| ENST00000613518.1:c.69G>C | |
| ENST00000617965.2:n.2309G>C | |
| ENST00000622545.1:c.451G>C |