Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12288832T>C , CM000668.2:g.12288832T>C | GRCh38 |
| NC_000006.11:g.12289065T>C , CM000668.1:g.12289065T>C | GRCh37 |
| NC_000006.10:g.12397051T>C | NCBI36 |
| NG_016196.1:g.3537T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011514330.1:c.-2+337T>C | XP_011512632.1:n.-2+337T>C | |
| XM_011514331.1:c.-1-1797T>C | XP_011512633.1:n.-1-1797T>C | |
| XM_011514332.1:c.-2+337T>C | XP_011512634.1:n.-2+337T>C | |
| XM_011514330.2:c.-2+337T>C | XP_011512632.1:n.-2+337T>C | |
| XM_011514331.3:c.-1-1797T>C | XP_011512633.1:n.-1-1797T>C | |
| XM_011514332.2:c.-2+337T>C | XP_011512634.1:n.-2+337T>C |