Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912600G>C , CM000674.2:g.4912600G>C | GRCh38 |
| NC_000012.11:g.5021766G>C , CM000674.1:g.5021766G>C | GRCh37 |
| NC_000012.10:g.4892027G>C | NCBI36 |
| NG_011815.1:g.7694G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000217.3:c.1222G>C MANE Select | NP_000208.2:p.Val408Leu |
| ENST00000382545.5:c.1222G>C MANE Select | ENSP00000371985.3:p.Val408Leu |
| NM_000217.2:c.1222G>C | NP_000208.2:p.Val408Leu |
| ENST00000382545.3:c.1222G>C | ENSP00000371985.3:p.Val408Leu |
| ENST00000541095.1:n.105+2128G>C | |
| ENST00000543874.2:n.96+2128G>C | |
| ENST00000543874.3:n.105+2128G>C | |
| ENST00000639306.1:c.1060G>C | ENSP00000492506.1:p.Val354Leu |
| ENST00000639680.1:c.76+334G>C |