Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32634450A>C , CM000668.2:g.32634450A>C | GRCh38 |
| NC_000006.11:g.32602227A>C , CM000668.1:g.32602227A>C | GRCh37 |
| NC_000006.10:g.32710205A>C | NCBI36 |
| NG_032876.1:g.2045A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422863.1:c.-39+1541A>C | ENSP00000405797.1:n.-39+1541A>C |