Canonical Allele Identifier:
CA989834278
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45145697A>T , CM000680.2:g.45145697A>T | GRCh38 |
| NC_000018.9:g.42725662A>T , CM000680.1:g.42725662A>T | GRCh37 |
| NC_000018.8:g.40979660A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935420.1:n.195+4443T>A | ||
| XR_935421.1:n.195+4443T>A | ||
| XR_935421.2:n.242+4443T>A |