Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319378T>G , CM000673.2:g.6319378T>G | GRCh38 |
| NC_000011.9:g.6340608T>G , CM000673.1:g.6340608T>G | GRCh37 |
| NC_000011.8:g.6297184T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.571A>C MANE Select | ENSP00000307292.3:p.Arg191= | |
| ENST00000303927.3:c.571A>C | ENSP00000307292.3:p.Arg191= | |
| ENST00000524852.1:n.357A>C | ||
| ENST00000530979.1:c.667A>C | ENSP00000432047.1:p.Arg223= | |
| ENST00000532354.1:n.593A>C | ||
| NM_145040.2:c.571A>C | NP_659477.2:p.Arg191= | |
| XR_930997.1:n.720+1158T>G | ||
| XR_242848.4:n.238T>G | ||
| NM_145040.3:c.571A>C MANE Select | NP_659477.2:p.Arg191= |