Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.145043898A>C , CM000664.2:g.145043898A>C | GRCh38 |
| NC_000002.11:g.145801465A>C , CM000664.1:g.145801465A>C | GRCh37 |
| NC_000002.10:g.145517935A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_033870.2:n.464-26922A>C | |
| XR_923410.2:n.1051+20625A>C | |
| XR_923411.1:n.200+20625A>C |