Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373275C>G , CM000672.2:g.133373275C>G | GRCh38 |
| NC_000010.10:g.135186779C>G , CM000672.1:g.135186779C>G | GRCh37 |
| NC_000010.9:g.135036769C>G | NCBI36 |
| NG_042077.1:g.5130G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.59G>C MANE Select | ENSP00000357535.3:p.Arg20Pro | |
| ENST00000368547.3:c.59G>C | ENSP00000357535.3:p.Arg20Pro | |
| NM_004092.3:c.59G>C | NP_004083.3:p.Arg20Pro | |
| XR_002956965.1:n.122G>C | ||
| NM_004092.4:c.59G>C MANE Select | NP_004083.3:p.Arg20Pro |