Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190387611A>G , CM000665.2:g.190387611A>G | GRCh38 |
| NC_000003.11:g.190105400A>G , CM000665.1:g.190105400A>G | GRCh37 |
| NC_000003.10:g.191588094A>G | NCBI36 |
| NG_008149.1:g.4560A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378492.1:c.-93-626A>G | NP_001365421.1:n.-93-626A>G |
| NM_001378493.1:c.-93-626A>G | NP_001365422.1:n.-93-626A>G |
| ENST00000468220.1:n.306+13008A>G |