Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38481293T>G , CM000677.2:g.38481293T>G | GRCh38 |
| NC_000015.9:g.38773494T>G , CM000677.1:g.38773494T>G | GRCh37 |
| NC_000015.8:g.36560786T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173611.4:c.731T>G MANE Select | NP_775882.2:p.Val244Gly |
| ENST00000397609.6:c.731T>G MANE Select | ENSP00000380734.2:p.Val244Gly |
| NM_173611.3:c.731T>G | NP_775882.2:p.Val244Gly |
| ENST00000491535.5:c.731T>G | ENSP00000453166.1:p.Val244Gly |
| ENST00000559431.1:c.259-3299T>G | ENSP00000453926.1:n.259-3299T>G |