Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668118C= , CM000670.2:g.86668118C= | GRCh38 |
| NC_000008.10:g.87680346C= , CM000670.1:g.87680346C= | GRCh37 |
| NC_000008.9:g.87749462C= | NCBI36 |
| NG_016980.1:g.80558G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.544G= MANE Select | ENSP00000316605.5:p.Glu182= | |
| ENST00000681746.1:c.544G= | ENSP00000505959.1:p.Glu182= | |
| ENST00000320005.5:c.544G= | ENSP00000316605.5:p.Glu182= | |
| NM_019098.4:c.544G= | NP_061971.3:p.Glu182= | |
| XM_011517138.1:c.130G= | XP_011515440.1:p.Glu44= | |
| XM_011517138.2:c.130G= | XP_011515440.1:p.Glu44= | |
| NM_019098.5:c.544G= MANE Select | NP_061971.3:p.Glu182= |