Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6097003C= , CM000682.2:g.6097003C= | GRCh38 |
| NC_000020.10:g.6077650C= , CM000682.1:g.6077650C= | GRCh37 |
| NC_000020.9:g.6025650C= | NCBI36 |
| NG_016213.1:g.31542G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.988G= | ENSP00000514127.1:p.Glu330= | |
| ENST00000699096.1:n.1450G= | ||
| ENST00000699097.1:n.158G= | ||
| ENST00000217289.9:c.988G= MANE Select | ENSP00000217289.4:p.Glu330= | |
| ENST00000217289.8:c.988G= | ENSP00000217289.4:p.Glu330= | |
| ENST00000536936.1:c.217G= | ENSP00000441063.1:p.Glu73= | |
| NM_017671.4:c.988G= | NP_060141.3:p.Glu330= | |
| XM_024451935.1:c.988G= | XP_024307703.1:p.Glu330= | |
| NM_017671.5:c.988G= MANE Select | NP_060141.3:p.Glu330= |