Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.54456136G>C , CM000667.2:g.54456136G>C | GRCh38 |
| NC_000005.9:g.53751966G>C , CM000667.1:g.53751966G>C | GRCh37 |
| NC_000005.8:g.53787723G>C | NCBI36 |
| NG_027758.1:g.5536G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302005.3:c.347G>C MANE Select | ENSP00000303394.1:p.Arg116Pro | |
| ENST00000302005.2:c.347G>C | ENSP00000303394.1:p.Arg116Pro | |
| NM_006308.2:c.347G>C | NP_006299.1:p.Arg116Pro | |
| NM_006308.3:c.347G>C MANE Select | NP_006299.1:p.Arg116Pro |