Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.116472146C>A , CM000663.2:g.116472146C>A | GRCh38 |
| NC_000001.10:g.117014768C>A , CM000663.1:g.117014768C>A | GRCh37 |
| NC_000001.9:g.116816291C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125972.1:n.167+5906G>T | ||
| NR_125973.1:n.151+2088G>T |