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