Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176983C>A , CM000678.2:g.176983C>A | GRCh38 |
| NC_000016.9:g.226982C>A , CM000678.1:g.226982C>A | GRCh37 |
| NC_000016.8:g.166982C>A | NCBI36 |
| NG_000006.1:g.37846C>A | |
| NG_059186.1:g.5333C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.150C>A MANE Select | ENSP00000322421.5:p.Ser50Arg | |
| ENST00000397797.1:c.54C>A | ENSP00000380899.1:p.Ser18Arg | |
| ENST00000472694.1:n.286C>A | ||
| ENST00000487791.1:n.119C>A | ||
| NM_000558.4:c.150C>A | NP_000549.1:p.Ser50Arg | |
| NM_000558.5:c.150C>A MANE Select | NP_000549.1:p.Ser50Arg |