Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930050A>C , CM000685.2:g.119930050A>C | GRCh38 |
| NC_000023.10:g.119064013A>C , CM000685.1:g.119064013A>C | GRCh37 |
| NC_000023.9:g.118948041A>C | NCBI36 |
| NG_021260.1:g.18723T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.1039T>G MANE Select | ENSP00000360464.3:p.Phe347Val | |
| ENST00000652253.1:c.1035T>G | ||
| ENST00000371410.4:c.1039T>G | ENSP00000360464.3:p.Phe347Val | |
| ENST00000477789.5:n.1967T>G | ||
| NM_024528.3:c.1039T>G | NP_078804.2:p.Phe347Val | |
| XM_017029842.1:c.742T>G | XP_016885331.1:p.Phe248Val | |
| NM_024528.4:c.1039T>G MANE Select | NP_078804.2:p.Phe347Val |