Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12289406A>C , CM000668.2:g.12289406A>C | GRCh38 |
| NC_000006.11:g.12289639A>C , CM000668.1:g.12289639A>C | GRCh37 |
| NC_000006.10:g.12397625A>C | NCBI36 |
| NG_016196.1:g.4111A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011514330.1:c.-2+911A>C | XP_011512632.1:n.-2+911A>C |
| XM_011514330.2:c.-2+911A>C | XP_011512632.1:n.-2+911A>C |
| XM_011514331.1:c.-1-1223A>C | XP_011512633.1:n.-1-1223A>C |
| XM_011514331.3:c.-1-1223A>C | XP_011512633.1:n.-1-1223A>C |
| XM_011514332.1:c.-2+911A>C | XP_011512634.1:n.-2+911A>C |
| XM_011514332.2:c.-2+911A>C | XP_011512634.1:n.-2+911A>C |