Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39243542C= , CM000681.2:g.39243542C= | GRCh38 |
| NC_000019.9:g.39734182C= , CM000681.1:g.39734182C= | GRCh37 |
| NC_000019.8:g.44426022C= | NCBI36 |
| NG_042193.1:g.6430G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613087.5:c.*90G= | ENSP00000481633.1:n.*90G= | |
| NM_001346937.2:c.*90G= | NP_001333866.1:n.*90G= |