Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.131215330G>A , CM000669.2:g.131215330G>A | GRCh38 |
| NC_000007.13:g.130900089G>A , CM000669.1:g.130900089G>A | GRCh37 |
| NC_000007.12:g.130550629G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416992.6:c.-179+12356G>A | ENSP00000387920.1:n.-179+12356G>A | |
| ENST00000421797.6:c.-179+72389G>A | ENSP00000398094.2:n.-179+72389G>A | |
| NM_001145354.1:c.29+72389G>A | NP_001138826.1:n.29+72389G>A | |
| XM_024446767.1:c.-179+12356G>A | XP_024302535.1:n.-179+12356G>A | |
| NM_001145354.2:c.29+72389G>A | NP_001138826.1:n.29+72389G>A |