Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.59110368G>C , CM000679.2:g.59110368G>C | GRCh38 |
| NC_000017.10:g.57187729G>C , CM000679.1:g.57187729G>C | GRCh37 |
| NC_000017.9:g.54542511G>C | NCBI36 |
| NG_009298.1:g.1538C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330137.12:c.*1909C>G MANE Select | ENSP00000333433.7:n.*1909C>G | |
| ENST00000330137.11:c.*1909C>G | ENSP00000333433.7:n.*1909C>G | |
| NM_001100595.1:c.*1965C>G | NP_001094065.1:n.*1965C>G | |
| NM_182620.3:c.*1909C>G | NP_872426.1:n.*1909C>G | |
| XM_011524745.1:c.*1965C>G | XP_011523047.1:n.*1965C>G | |
| NM_001330399.1:c.*1965C>G | NP_001317328.1:n.*1965C>G | |
| NM_182620.4:c.*1909C>G MANE Select | NP_872426.1:n.*1909C>G | |
| NM_001100595.2:c.*1965C>G | NP_001094065.1:n.*1965C>G | |
| NM_001330399.2:c.*1965C>G | NP_001317328.1:n.*1965C>G |