Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097952C>A , CM000685.2:g.154097952C>A | GRCh38 |
| NC_000023.10:g.153363410C>A , CM000685.1:g.153363410C>A | GRCh37 |
| NC_000023.9:g.153016604C>A | NCBI36 |
| NG_007107.2:g.44169G>T | |
| NG_007107.3:g.44152G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631210.1:n.305+6829G>T |