Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.174106368A>C , CM000666.2:g.174106368A>C | GRCh38 |
| NC_000004.11:g.175027519A>C , CM000666.1:g.175027519A>C | GRCh37 |
| NC_000004.10:g.175264094A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125896.1:n.276-8539T>G | ||
| XR_939484.1:n.877+18729A>C | ||
| XR_939485.1:n.877+18729A>C |