Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5495458T>C , CM000674.2:g.5495458T>C | GRCh38 |
| NC_000012.11:g.5604624T>C , CM000674.1:g.5604624T>C | GRCh37 |
| NC_000012.10:g.5474885T>C | NCBI36 |
| NG_050629.1:g.68345T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000535299.5:n.232-11107T>C |