Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.19131004T>C , CM000675.2:g.19131004T>C | GRCh38 |
| NC_000013.10:g.19705144T>C , CM000675.1:g.19705144T>C | GRCh37 |
| NC_000013.9:g.18603144T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425713.1:n.493-288T>C |