Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115705253C>G , CM000663.2:g.115705253C>G | GRCh38 |
| NC_000001.10:g.116247874C>G , CM000663.1:g.116247874C>G | GRCh37 |
| NC_000001.9:g.116049397C>G | NCBI36 |
| NG_008802.1:g.68553G>C , LRG_404:g.68553G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001232.4:c.878G>C MANE Select | NP_001223.2:p.Arg293Pro |
| ENST00000261448.6:c.878G>C MANE Select | ENSP00000261448.5:p.Arg293Pro |
| NM_001232.3:c.878G>C , LRG_404t1:c.878G>C | NP_001223.2:p.Arg293Pro |
| ENST00000261448.5:c.878G>C | ENSP00000261448.5:p.Arg293Pro |
| ENST00000488931.2:c.*250G>C | ENSP00000518226.1:n.*250G>C |