Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65029608C>A , CM000677.2:g.65029608C>A | GRCh38 |
| NC_000015.9:g.65321946C>A , CM000677.1:g.65321946C>A | GRCh37 |
| NC_000015.8:g.63108999C>A | NCBI36 |
| NG_029184.1:g.5032G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220058.9:c.6G>T MANE Select | ENSP00000220058.4:p.Arg2Ser | |
| ENST00000220058.8:c.6G>T | ENSP00000220058.4:p.Arg2Ser | |
| ENST00000543678.1:c.6G>T | ENSP00000443754.1:p.Arg2Ser | |
| ENST00000558460.5:c.6G>T | ENSP00000452646.1:p.Arg2Ser | |
| NM_139242.3:c.6G>T | NP_640335.2:p.Arg2Ser | |
| XM_005254158.5:c.6G>T | XP_005254215.2:p.Arg2Ser | |
| XR_001751081.1:n.21G>T | ||
| NM_139242.4:c.6G>T MANE Select | NP_640335.2:p.Arg2Ser |