Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65006127C>A , CM000677.2:g.65006127C>A | GRCh38 |
| NC_000015.9:g.65298465C>A , CM000677.1:g.65298465C>A | GRCh37 |
| NC_000015.8:g.63085518C>A | NCBI36 |
| NG_029184.1:g.28513G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139242.4:c.878G>T MANE Select | NP_640335.2:p.Ser293Ile |
| ENST00000220058.9:c.878G>T MANE Select | ENSP00000220058.4:p.Ser293Ile |
| NM_139242.3:c.878G>T | NP_640335.2:p.Ser293Ile |
| ENST00000220058.8:c.878G>T | ENSP00000220058.4:p.Ser293Ile |
| ENST00000558460.5:c.878G>T | ENSP00000452646.1:p.Ser293Ile |
| ENST00000560717.5:c.753G>T | ENSP00000457257.1:n.753G>T |
| XM_005254158.3:c.623G>T | XP_005254215.1:p.Ser208Ile |
| XM_005254158.5:c.1031G>T | XP_005254215.2:p.Ser344Ile |