Canonical Allele Identifier:
CA2664003126
Gene:
Linked Data
gnomAD v4:
2-240868468-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868468T>C , CM000664.2:g.240868468T>C | GRCh38 |
| NC_000002.11:g.241807885T>C , CM000664.1:g.241807885T>C | GRCh37 |
| NC_000002.10:g.241456558T>C | NCBI36 |
| NG_008005.1:g.4724T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_924060.1:n.405+1765A>G |