Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1299208T>C , CM000678.2:g.1299208T>C | GRCh38 |
| NC_000016.9:g.1349209T>C , CM000678.1:g.1349209T>C | GRCh37 |
| NC_000016.8:g.1289210T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711353.1:n.390+7375T>C |