Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.114471855A>G , CM000673.2:g.114471855A>G | GRCh38 |
| NC_000011.9:g.114342577A>G , CM000673.1:g.114342577A>G | GRCh37 |
| NC_000011.8:g.113847787A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948034.1:n.1184+4906A>G | ||
| XM_017017209.1:c.-483+4906A>G | XP_016872698.1:n.-483+4906A>G |