Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32634457T>G , CM000668.2:g.32634457T>G | GRCh38 |
| NC_000006.11:g.32602234T>G , CM000668.1:g.32602234T>G | GRCh37 |
| NC_000006.10:g.32710212T>G | NCBI36 |
| NG_032876.1:g.2052T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422863.1:c.-39+1548T>G | ENSP00000405797.1:n.-39+1548T>G |