Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120978394C>G , CM000674.2:g.120978394C>G | GRCh38 |
| NC_000012.11:g.121416197C>G , CM000674.1:g.121416197C>G | GRCh37 |
| NC_000012.10:g.119900580C>G | NCBI36 |
| NG_011731.2:g.4649C>G , LRG_522:g.4649C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005253931.2:c.-375C>G | XP_005253988.1:n.-375C>G | |
| XM_024449168.1:c.-375C>G | XP_024304936.1:n.-375C>G |