Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519890G>C , CM000674.2:g.52519890G>C | GRCh38 |
| NC_000012.11:g.52913674G>C , CM000674.1:g.52913674G>C | GRCh37 |
| NC_000012.10:g.51199941G>C | NCBI36 |
| NG_008297.1:g.5570C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.407C>G MANE Select | ENSP00000252242.4:p.Pro136Arg | |
| ENST00000252242.8:c.407C>G | ENSP00000252242.4:p.Pro136Arg | |
| ENST00000549420.1:c.77C>G | ENSP00000447209.1:p.Pro26Arg | |
| ENST00000551275.1:c.302C>G | ENSP00000448041.1:p.Pro101Arg | |
| ENST00000552629.5:n.505C>G | ||
| NM_000424.3:c.407C>G | NP_000415.2:p.Pro136Arg | |
| NM_000424.4:c.407C>G MANE Select | NP_000415.2:p.Pro136Arg |