Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2340748C= , CM000678.2:g.2340748C= | GRCh38 |
| NC_000016.9:g.2390749C= , CM000678.1:g.2390749C= | GRCh37 |
| NC_000016.8:g.2330750C= | NCBI36 |
| NG_011790.1:g.4999G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000640929.1:n.42+1417C= | ||
| ENST00000512848.5:n.182+1417C= |