Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94941873G>A , CM000672.2:g.94941873G>A | GRCh38 |
| NC_000010.10:g.96701630G>A , CM000672.1:g.96701630G>A | GRCh37 |
| NC_000010.9:g.96691620G>A | NCBI36 |
| NG_008385.1:g.8216G>A | |
| NG_008385.2:g.8716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.184G>A MANE Select | ENSP00000260682.6:p.Gly62Ser | |
| ENST00000643112.1:c.184G>A | ENSP00000496202.1:p.Gly62Ser | |
| ENST00000645207.1:n.337G>A | ||
| ENST00000260682.6:c.184G>A | ENSP00000260682.6:p.Gly62Ser | |
| ENST00000461906.1:n.209G>A | ||
| NM_000771.3:c.184G>A | NP_000762.2:p.Gly62Ser | |
| NM_000771.4:c.184G>A MANE Select | NP_000762.2:p.Gly62Ser |