Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.157923692G>A , CM000664.2:g.157923692G>A | GRCh38 |
| NC_000002.11:g.158780204G>A , CM000664.1:g.158780204G>A | GRCh37 |
| NC_000002.10:g.158488450G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000605860.5:c.-20+46964G>A | ENSP00000474090.1:n.-20+46964G>A |