Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44309716G>C , CM000673.2:g.44309716G>C | GRCh38 |
| NC_000011.9:g.44331266G>C , CM000673.1:g.44331266G>C | GRCh37 |
| NC_000011.8:g.44287842G>C | NCBI36 |
| NG_015809.1:g.5451C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652299.1:c.347C>G MANE Select | ENSP00000498217.1:p.Pro116Arg | |
| ENST00000329255.3:c.347C>G | ENSP00000332744.3:p.Pro116Arg | |
| NM_021926.3:c.347C>G | NP_068745.2:p.Pro116Arg | |
| XM_011520264.1:c.347C>G | XP_011518566.1:p.Pro116Arg | |
| XM_011520265.1:c.-147-29C>G | XP_011518567.1:n.-147-29C>G | |
| NM_021926.4:c.347C>G MANE Select | NP_068745.2:p.Pro116Arg |