Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.18269920G>A , CM000665.2:g.18269920G>A | GRCh38 |
| NC_000003.11:g.18311412G>A , CM000665.1:g.18311412G>A | GRCh37 |
| NC_000003.10:g.18286416G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414318.2:n.211+174687C>T |