Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930101G>A , CM000685.2:g.119930101G>A | GRCh38 |
| NC_000023.10:g.119064064G>A , CM000685.1:g.119064064G>A | GRCh37 |
| NC_000023.9:g.118948092G>A | NCBI36 |
| NG_021260.1:g.18672C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371410.5:c.988C>T MANE Select | ENSP00000360464.3:p.Arg330Cys | |
| ENST00000652253.1:c.984C>T | ||
| ENST00000371410.4:c.988C>T | ENSP00000360464.3:p.Arg330Cys | |
| ENST00000477789.5:n.1916C>T | ||
| NM_024528.3:c.988C>T | NP_078804.2:p.Arg330Cys | |
| XM_017029842.1:c.691C>T | XP_016885331.1:p.Arg231Cys | |
| NM_024528.4:c.988C>T MANE Select | NP_078804.2:p.Arg330Cys |