Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96332406A>G , CM000677.2:g.96332406A>G | GRCh38 |
| NC_000015.9:g.96875635A>G , CM000677.1:g.96875635A>G | GRCh37 |
| NC_000015.8:g.94676639A>G | NCBI36 |
| NG_016753.1:g.11479A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394166.8:c.301A>G MANE Select | ENSP00000377721.3:p.Ser101Gly | |
| ENST00000394166.7:c.301A>G | ENSP00000377721.3:p.Ser101Gly | |
| ENST00000421109.6:c.44-1670A>G | ENSP00000401674.2:n.44-1670A>G | |
| NM_001145155.1:c.44-1670A>G | NP_001138627.1:n.44-1670A>G | |
| NM_021005.3:c.301A>G | NP_066285.1:p.Ser101Gly | |
| NM_021005.4:c.301A>G MANE Select | NP_066285.1:p.Ser101Gly | |
| NM_001145155.2:c.44-1670A>G | NP_001138627.1:n.44-1670A>G |