Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23302174G>A , CM000678.2:g.23302174G>A | GRCh38 |
| NC_000016.9:g.23313495G>A , CM000678.1:g.23313495G>A | GRCh37 |
| NC_000016.8:g.23220996G>A | NCBI36 |
| NG_011908.1:g.4905G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000569789.1:n.178+18370G>A | |
| XM_017023525.1:c.49+18370G>A | XP_016879014.1:n.49+18370G>A |
| XM_017023526.1:c.49+18370G>A | XP_016879015.1:n.49+18370G>A |