Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945848G>C , CM000679.2:g.4945848G>C | GRCh38 |
| NC_000017.10:g.4849143G>C , CM000679.1:g.4849143G>C | GRCh37 |
| NC_000017.9:g.4789888G>C | NCBI36 |
| NG_012063.2:g.4758G>C | |
| NG_032945.1:g.8239C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.*52C>G MANE Select | ENSP00000225655.5:n.*52C>G | |
| ENST00000225655.5:c.*52C>G | ENSP00000225655.5:n.*52C>G | |
| ENST00000574872.1:c.*52C>G | ENSP00000465019.1:n.*52C>G | |
| NM_005022.3:c.*52C>G | NP_005013.1:n.*52C>G | |
| XM_017024761.1:c.*559C>G | XP_016880250.1:n.*559C>G | |
| NM_001375991.1:c.*559C>G | NP_001362920.1:n.*559C>G | |
| NM_005022.4:c.*52C>G MANE Select | NP_005013.1:n.*52C>G |