Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142875125C>G , CM000669.2:g.142875125C>G | GRCh38 |
| NC_000007.13:g.142572878C>G , CM000669.1:g.142572878C>G | GRCh37 |
| NC_000007.12:g.142283000C>G | NCBI36 |
| NG_050669.1:g.15621G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018646.6:c.1282G>C MANE Select | NP_061116.5:p.Gly428Arg |
| ENST00000359396.9:c.1282G>C MANE Select | ENSP00000352358.5:p.Gly428Arg |
| NM_018646.5:c.1282G>C | NP_061116.5:p.Gly428Arg |
| ENST00000359396.7:c.1282G>C | ENSP00000352358.4:p.Gly428Arg |
| ENST00000436401.1:c.31G>C | ENSP00000411100.1:p.Gly11Arg |
| ENST00000463646.5:c.775G>C | ENSP00000479084.1:p.Gly259Arg |
| ENST00000485138.5:n.533G>C | |
| ENST00000615386.4:n.8923G>C | |
| ENST00000619250.1:n.940G>C |