Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.132640550A= , CM000669.2:g.132640550A= | GRCh38 |
| NC_000007.13:g.132325309A= , CM000669.1:g.132325309A= | GRCh37 |
| NC_000007.12:g.131975849A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181775.3:c.-87+5378T= | NP_861440.2:n.-87+5378T= |
| NM_181775.4:c.-87+5378T= | NP_861440.2:n.-87+5378T= |
| ENST00000378539.5:c.-87+5378T= | ENSP00000367800.5:n.-87+5378T= |