Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912158G= , CM000674.2:g.4912158G= | GRCh38 |
| NC_000012.11:g.5021324G= , CM000674.1:g.5021324G= | GRCh37 |
| NC_000012.10:g.4891585G= | NCBI36 |
| NG_011815.1:g.7252G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.780G= MANE Select | ENSP00000371985.3:p.Val260= | |
| ENST00000543874.3:n.105+1686G= | ||
| ENST00000639306.1:c.618G= | ENSP00000492506.1:p.Val206= | |
| ENST00000382545.3:c.780G= | ENSP00000371985.3:p.Val260= | |
| ENST00000541095.1:n.105+1686G= | ||
| ENST00000543874.2:n.96+1686G= | ||
| NM_000217.2:c.780G= | NP_000208.2:p.Val260= | |
| NM_000217.3:c.780G= MANE Select | NP_000208.2:p.Val260= |