Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.47156200C>A , CM000680.2:g.47156200C>A | GRCh38 |
| NC_000018.9:g.44682571C>A , CM000680.1:g.44682571C>A | GRCh37 |
| NC_000018.8:g.42936569C>A | NCBI36 |
| NG_031925.1:g.25175G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256433.6:c.226G>T MANE Select | ENSP00000256433.3:p.Val76Leu | |
| ENST00000602459.6:c.92-19751G>T | ENSP00000473358.1:n.92-19751G>T | |
| ENST00000256433.4:c.226G>T | ENSP00000256433.3:p.Val76Leu | |
| ENST00000588705.1:c.226G>T | ENSP00000465194.1:p.Val76Leu | |
| ENST00000602459.5:c.92-19751G>T | ENSP00000473358.1:n.92-19751G>T | |
| ENST00000602926.5:c.92-19751G>T | ENSP00000473502.1:n.92-19751G>T | |
| NM_016097.4:c.226G>T | NP_057181.1:p.Val76Leu | |
| NM_016097.5:c.226G>T MANE Select | NP_057181.1:p.Val76Leu |