Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65003169G>C , CM000677.2:g.65003169G>C | GRCh38 |
| NC_000015.9:g.65295507G>C , CM000677.1:g.65295507G>C | GRCh37 |
| NC_000015.8:g.63082560G>C | NCBI36 |
| NG_029184.1:g.31471C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139242.4:c.1063C>G MANE Select | NP_640335.2:p.Gln355Glu |
| ENST00000220058.9:c.1063C>G MANE Select | ENSP00000220058.4:p.Gln355Glu |
| NM_139242.3:c.1063C>G | NP_640335.2:p.Gln355Glu |
| ENST00000220058.8:c.1063C>G | ENSP00000220058.4:p.Gln355Glu |
| ENST00000558460.5:c.1063C>G | ENSP00000452646.1:p.Gln355Glu |
| ENST00000560717.5:c.938C>G | ENSP00000457257.1:n.938C>G |
| XM_005254158.3:c.808C>G | XP_005254215.1:p.Gln270Glu |
| XM_005254158.5:c.1216C>G | XP_005254215.2:p.Gln406Glu |