Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45584961T>C , CM000681.2:g.45584961T>C | GRCh38 |
| NC_000019.9:g.46088219T>C , CM000681.1:g.46088219T>C | GRCh37 |
| NC_000019.8:g.50780059T>C | NCBI36 |
| NG_013332.1:g.4904A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000544371.1:c.-18+17134A>G | ENSP00000442839.1:n.-18+17134A>G |