Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39243548C>G , CM000681.2:g.39243548C>G | GRCh38 |
| NC_000019.9:g.39734188C>G , CM000681.1:g.39734188C>G | GRCh37 |
| NC_000019.8:g.44426028C>G | NCBI36 |
| NG_042193.1:g.6424G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613087.5:c.*84G>C | ENSP00000481633.1:n.*84G>C | |
| NM_001346937.2:c.*84G>C | NP_001333866.1:n.*84G>C |