Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140633722G>T , CM000667.2:g.140633722G>T | GRCh38 |
| NC_000005.9:g.140013307G>T , CM000667.1:g.140013307G>T | GRCh37 |
| NC_000005.8:g.139993491G>T | NCBI36 |
| NG_023178.1:g.4980C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011537665.1:c.-129-7943G>T | XP_011535967.1:n.-129-7943G>T |
| XM_011537665.2:c.-129-7943G>T | XP_011535967.1:n.-129-7943G>T |