Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133524462C>A , CM000672.2:g.133524462C>A | GRCh38 |
| NC_000010.10:g.135337966C>A , CM000672.1:g.135337966C>A | GRCh37 |
| NC_000010.9:g.135187956C>A | NCBI36 |
| NG_008383.1:g.2100C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000463117.6:c.-117-2334C>A | ENSP00000440689.1:n.-117-2334C>A |
| XR_001747676.2:n.2344G>T |