Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140634318C>A , CM000667.2:g.140634318C>A | GRCh38 |
| NC_000005.9:g.140013903C>A , CM000667.1:g.140013903C>A | GRCh37 |
| NC_000005.8:g.139994087C>A | NCBI36 |
| NG_023178.1:g.4384G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011537665.1:c.-129-7347C>A | XP_011535967.1:n.-129-7347C>A |
| XM_011537665.2:c.-129-7347C>A | XP_011535967.1:n.-129-7347C>A |