Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930100C= , CM000685.2:g.119930100C= | GRCh38 |
| NC_000023.10:g.119064063C= , CM000685.1:g.119064063C= | GRCh37 |
| NC_000023.9:g.118948091C= | NCBI36 |
| NG_021260.1:g.18673G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371410.5:c.989G= MANE Select | ENSP00000360464.3:p.Arg330= | |
| ENST00000652253.1:c.985G= | ||
| ENST00000371410.4:c.989G= | ENSP00000360464.3:p.Arg330= | |
| ENST00000477789.5:n.1917G= | ||
| NM_024528.3:c.989G= | NP_078804.2:p.Arg330= | |
| XM_017029842.1:c.692G= | XP_016885331.1:p.Arg231= | |
| NM_024528.4:c.989G= MANE Select | NP_078804.2:p.Arg330= |