Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814397C>G , CM000664.2:g.218814397C>G | GRCh38 |
| NC_000002.11:g.219679120C>G , CM000664.1:g.219679120C>G | GRCh37 |
| NC_000002.10:g.219387364C>G | NCBI36 |
| NG_007959.1:g.37649C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.1202C>G MANE Select | NP_000775.1:p.Pro401Arg |
| ENST00000258415.9:c.1202C>G MANE Select | ENSP00000258415.4:p.Pro401Arg |
| NM_000784.3:c.1202C>G | NP_000775.1:p.Pro401Arg |
| ENST00000258415.8:c.1202C>G | ENSP00000258415.4:p.Pro401Arg |
| ENST00000494263.5:n.1828C>G | |
| XM_017003488.2:c.782C>G | XP_016858977.1:p.Pro261Arg |