Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.10029131A>G , CM000686.2:g.10029131A>G | GRCh38 |
| NC_000024.9:g.9866740A>G , CM000686.1:g.9866740A>G | GRCh37 |
| NC_000024.8:g.10476740A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000429799.1:n.379+1258T>C | |
| ENST00000651645.1:n.525+1258T>C |