Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65029568C>G , CM000677.2:g.65029568C>G | GRCh38 |
| NC_000015.9:g.65321906C>G , CM000677.1:g.65321906C>G | GRCh37 |
| NC_000015.8:g.63108959C>G | NCBI36 |
| NG_029184.1:g.5072G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220058.9:c.46G>C MANE Select | ENSP00000220058.4:p.Gly16Arg | |
| ENST00000220058.8:c.46G>C | ENSP00000220058.4:p.Gly16Arg | |
| ENST00000543678.1:c.46G>C | ENSP00000443754.1:p.Gly16Arg | |
| ENST00000558460.5:c.46G>C | ENSP00000452646.1:p.Gly16Arg | |
| ENST00000558614.1:n.7G>C | ||
| ENST00000560717.5:c.31G>C | ENSP00000457257.1:p.Gly11Arg | |
| NM_139242.3:c.46G>C | NP_640335.2:p.Gly16Arg | |
| XM_005254158.5:c.46G>C | XP_005254215.2:p.Gly16Arg | |
| XR_001751081.1:n.61G>C | ||
| NM_139242.4:c.46G>C MANE Select | NP_640335.2:p.Gly16Arg |