Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81208497G>T , CM000678.2:g.81208497G>T | GRCh38 |
| NC_000016.9:g.81242102G>T , CM000678.1:g.81242102G>T | GRCh37 |
| NC_000016.8:g.79799603G>T | NCBI36 |
| NG_033236.1:g.16874C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001076780.1:c.754C>A | NP_001070248.1:p.Arg252= |
| NM_001076780.2:c.754C>A | NP_001070248.1:p.Arg252= |
| NM_052892.3:c.754C>A | NP_443124.3:p.Arg252= |
| NM_052892.4:c.754C>A | NP_443124.3:p.Arg252= |
| NR_126532.1:n.754C>A | |
| NR_126532.2:n.778C>A | |
| ENST00000337114.8:c.754C>A | ENSP00000337397.4:p.Arg252= |
| ENST00000525539.5:c.754C>A | ENSP00000434417.1:p.Arg252= |
| ENST00000614230.4:c.754C>A | ENSP00000483832.1:p.Arg252= |