Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.213371345T>C , CM000663.2:g.213371345T>C | GRCh38 |
| NC_000001.10:g.213544688T>C , CM000663.1:g.213544688T>C | GRCh37 |
| NC_000001.9:g.211611311T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017001024.1:c.2548-7388T>C | XP_016856513.1:n.2548-7388T>C |