Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206864130G= , CM000663.2:g.206864130G= | GRCh38 |
| NC_000001.10:g.207037475G= , CM000663.1:g.207037475G= | GRCh37 |
| NC_000001.9:g.205104098G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001385166.1:c.-171+523G= | NP_001372095.1:n.-171+523G= | |
| NM_001385167.1:c.-252+523G= | NP_001372096.1:n.-252+523G= |