Canonical Allele Identifier:
CA2664003139
Gene:
Linked Data
gnomAD v4:
2-240868478-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868478G>A , CM000664.2:g.240868478G>A | GRCh38 |
| NC_000002.11:g.241807895G>A , CM000664.1:g.241807895G>A | GRCh37 |
| NC_000002.10:g.241456568G>A | NCBI36 |
| NG_008005.1:g.4734G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_924060.1:n.405+1755C>T |