dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.21450311G>T , CM000686.2:g.21450311G>T | GRCh38 |
| NC_000024.9:g.23612197G>T , CM000686.1:g.23612197G>T | GRCh37 |
| NC_000024.8:g.22021585G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011531421.1:c.-2362+1333C>A | XP_011529723.1:n.-2362+1333C>A | |
| XM_011531422.1:c.-1817+1333C>A | XP_011529724.1:n.-1817+1333C>A | |
| XR_938606.1:n.2979+1333C>A | ||
| XM_017030026.1:c.-2362+1333C>A | XP_016885515.1:n.-2362+1333C>A | |
| XM_017030027.1:c.-1817+1333C>A | XP_016885516.1:n.-1817+1333C>A | |
| NR_170372.1:n.203+1333C>A |