Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631342T>C , CM000679.2:g.4631342T>C | GRCh38 |
| NC_000017.10:g.4534637T>C , CM000679.1:g.4534637T>C | GRCh37 |
| NC_000017.9:g.4481386T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.*258A>G MANE Select | ENSP00000293761.3:n.*258A>G | |
| ENST00000293761.7:c.*258A>G | ENSP00000293761.3:n.*258A>G | |
| ENST00000570836.5:c.*258A>G | ENSP00000458832.1:n.*258A>G | |
| ENST00000574640.1:c.*258A>G | ENSP00000460483.1:n.*258A>G | |
| NM_001140.3:c.*258A>G | NP_001131.3:n.*258A>G | |
| NM_001140.4:c.*258A>G | NP_001131.3:n.*258A>G | |
| NM_001140.5:c.*258A>G MANE Select | NP_001131.3:n.*258A>G |