Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097947G>A , CM000685.2:g.154097947G>A | GRCh38 |
| NC_000023.10:g.153363405G>A , CM000685.1:g.153363405G>A | GRCh37 |
| NC_000023.9:g.153016599G>A | NCBI36 |
| NG_007107.2:g.44174C>T | |
| NG_007107.3:g.44157C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631210.1:n.305+6834C>T |