Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65029601C>G , CM000677.2:g.65029601C>G | GRCh38 |
| NC_000015.9:g.65321939C>G , CM000677.1:g.65321939C>G | GRCh37 |
| NC_000015.8:g.63108992C>G | NCBI36 |
| NG_029184.1:g.5039G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220058.9:c.13G>C MANE Select | ENSP00000220058.4:p.Val5Leu | |
| ENST00000220058.8:c.13G>C | ENSP00000220058.4:p.Val5Leu | |
| ENST00000543678.1:c.13G>C | ENSP00000443754.1:p.Val5Leu | |
| ENST00000558460.5:c.13G>C | ENSP00000452646.1:p.Val5Leu | |
| NM_139242.3:c.13G>C | NP_640335.2:p.Val5Leu | |
| XM_005254158.5:c.13G>C | XP_005254215.2:p.Val5Leu | |
| XR_001751081.1:n.28G>C | ||
| NM_139242.4:c.13G>C MANE Select | NP_640335.2:p.Val5Leu |