Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38310501G>A , CM000682.2:g.38310501G>A | GRCh38 |
| NC_000020.10:g.36938903G>A , CM000682.1:g.36938903G>A | GRCh37 |
| NC_000020.9:g.36372317G>A | NCBI36 |
| NG_047016.1:g.11352G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262865.9:c.397G>A | ENSP00000262865.4:p.Gly133Ser | |
| ENST00000642449.2:c.385G>A MANE Select | ENSP00000494528.2:p.Gly129Ser | |
| ENST00000262865.8:c.397G>A | ENSP00000262865.4:p.Gly133Ser | |
| NM_001725.2:c.397G>A | NP_001716.2:p.Gly133Ser | |
| XM_005260522.2:c.397G>A | XP_005260579.1:p.Gly133Ser | |
| XR_430313.2:n.426G>A | ||
| XR_936707.1:n.135+6924C>T | ||
| XR_936708.1:n.135+6924C>T | ||
| NM_001725.3:c.385G>A MANE Select | NP_001716.3:p.Gly129Ser |