Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28780143T>C , CM000676.2:g.28780143T>C | GRCh38 |
| NC_000014.8:g.29249349T>C , CM000676.1:g.29249349T>C | GRCh37 |
| NC_000014.7:g.28319100T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_026731.1:n.226+6710T>C |