Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373281G>C , CM000672.2:g.133373281G>C | GRCh38 |
| NC_000010.10:g.135186785G>C , CM000672.1:g.135186785G>C | GRCh37 |
| NC_000010.9:g.135036775G>C | NCBI36 |
| NG_042077.1:g.5124C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.53C>G MANE Select | ENSP00000357535.3:p.Pro18Arg | |
| ENST00000368547.3:c.53C>G | ENSP00000357535.3:p.Pro18Arg | |
| NM_004092.3:c.53C>G | NP_004083.3:p.Pro18Arg | |
| XR_002956965.1:n.116C>G | ||
| NM_004092.4:c.53C>G MANE Select | NP_004083.3:p.Pro18Arg |