Canonical Allele Identifier:
CA2589281105
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8707968A>G , CM000686.2:g.8707968A>G | GRCh38 |
| NC_000024.9:g.8576009A>G , CM000686.1:g.8576009A>G | GRCh37 |
| NC_000024.8:g.8636009A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623558.1:c.139+8936A>G | ENSP00000485446.1:n.139+8936A>G | |
| ENST00000624593.1:c.-57+40748T>C | ENSP00000485106.1:n.-57+40748T>C |