Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.173734763A>C , CM000666.2:g.173734763A>C | GRCh38 |
| NC_000004.11:g.174655914A>C , CM000666.1:g.174655914A>C | GRCh37 |
| NC_000004.10:g.174892489A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_244760.2:n.55-607A>C | ||
| XR_939473.1:n.1195-607A>C |