Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.176666663T>C , CM000666.2:g.176666663T>C | GRCh38 |
| NC_000004.11:g.177587814T>C , CM000666.1:g.177587814T>C | GRCh37 |
| NC_000004.10:g.177824808T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939498.1:n.121-2958T>C | ||
| XR_939499.1:n.121-2958T>C | ||
| XR_939498.2:n.208-2958T>C | ||
| XR_939499.2:n.204-2958T>C |