Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201287749G>A , CM000664.2:g.201287749G>A | GRCh38 |
| NC_000002.11:g.202152472G>A , CM000664.1:g.202152472G>A | GRCh37 |
| NC_000002.10:g.201860717G>A | NCBI36 |
| NG_007497.1:g.59292G>A , LRG_34:g.59292G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696069.1:c.1259+2432G>A | ENSP00000512371.1:n.1259+2432G>A |