Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631295C>G , CM000679.2:g.4631295C>G | GRCh38 |
| NC_000017.10:g.4534590C>G , CM000679.1:g.4534590C>G | GRCh37 |
| NC_000017.9:g.4481339C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.*305G>C MANE Select | ENSP00000293761.3:n.*305G>C | |
| ENST00000293761.7:c.*305G>C | ENSP00000293761.3:n.*305G>C | |
| ENST00000570836.5:c.*305G>C | ENSP00000458832.1:n.*305G>C | |
| NM_001140.3:c.*305G>C | NP_001131.3:n.*305G>C | |
| NM_001140.4:c.*305G>C | NP_001131.3:n.*305G>C | |
| NM_001140.5:c.*305G>C MANE Select | NP_001131.3:n.*305G>C |