Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93586184C>T , CM000674.2:g.93586184C>T | GRCh38 |
| NC_000012.11:g.93979960C>T , CM000674.1:g.93979960C>T | GRCh37 |
| NC_000012.10:g.92504091C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005269213.3:c.*425C>T | XP_005269270.2:n.*425C>T | |
| XM_006719673.1:c.*425C>T | XP_006719736.1:n.*425C>T | |
| XM_006719674.1:c.*425C>T | XP_006719737.1:n.*425C>T | |
| XM_011538929.1:c.*425C>T | XP_011537231.1:n.*425C>T | |
| XM_011538930.1:c.*425C>T | XP_011537232.1:n.*425C>T | |
| XM_011538931.1:c.*425C>T | XP_011537233.1:n.*425C>T | |
| XM_011538932.1:c.*425C>T | XP_011537234.1:n.*425C>T | |
| XM_011538933.1:c.*425C>T | XP_011537235.1:n.*425C>T | |
| XM_011538934.1:c.*425C>T | XP_011537236.1:n.*425C>T | |
| XM_011538935.1:c.591+11011C>T | XP_011537237.1:n.591+11011C>T | |
| XR_944810.1:n.1769C>T |