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