Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2340850C>T , CM000678.2:g.2340850C>T | GRCh38 |
| NC_000016.9:g.2390851C>T , CM000678.1:g.2390851C>T | GRCh37 |
| NC_000016.8:g.2330852C>T | NCBI36 |
| NG_011790.1:g.4897G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000640929.1:n.42+1519C>T | ||
| ENST00000512848.5:n.182+1519C>T |