Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32634856T>C , CM000668.2:g.32634856T>C | GRCh38 |
| NC_000006.11:g.32602633T>C , CM000668.1:g.32602633T>C | GRCh37 |
| NC_000006.10:g.32710611T>C | NCBI36 |
| NG_032876.1:g.2451T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422863.1:c.-39+1947T>C | ENSP00000405797.1:n.-39+1947T>C |