Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19483148G>T , CM000686.2:g.19483148G>T | GRCh38 |
| NC_000024.9:g.21645034G>T , CM000686.1:g.21645034G>T | GRCh37 |
| NC_000024.8:g.20104422G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_002923.2:n.123-2854C>A | |
| NR_033732.1:n.123-2854C>A | |
| ENST00000400605.5:n.106-2854C>A | |
| ENST00000441139.5:n.123-2854C>A | |
| ENST00000513194.1:n.1737C>A | |
| ENST00000650676.1:n.112-2854C>A |