Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.158393594C>A , CM000667.2:g.158393594C>A | GRCh38 |
| NC_000005.9:g.157820602C>A , CM000667.1:g.157820602C>A | GRCh37 |
| NC_000005.8:g.157753180C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_109888.1:n.128+16052G>T | |
| XR_941133.1:n.92-357G>T |