Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930100C>T , CM000685.2:g.119930100C>T | GRCh38 |
| NC_000023.10:g.119064063C>T , CM000685.1:g.119064063C>T | GRCh37 |
| NC_000023.9:g.118948091C>T | NCBI36 |
| NG_021260.1:g.18673G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371410.5:c.989G>A MANE Select | ENSP00000360464.3:p.Arg330His | |
| ENST00000652253.1:c.985G>A | ||
| ENST00000371410.4:c.989G>A | ENSP00000360464.3:p.Arg330His | |
| ENST00000477789.5:n.1917G>A | ||
| NM_024528.3:c.989G>A | NP_078804.2:p.Arg330His | |
| XM_017029842.1:c.692G>A | XP_016885331.1:p.Arg231His | |
| NM_024528.4:c.989G>A MANE Select | NP_078804.2:p.Arg330His |