Canonical Allele Identifier: CA892287836
Gene:

Linked Data

dbSNP Id: rs1230822883
gnomAD v3: 2-67637469-T-G
gnomAD v4: 2-67637469-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.67637469T>G , CM000664.2:g.67637469T>G GRCh38
NC_000002.11:g.67864601T>G , CM000664.1:g.67864601T>G GRCh37
NC_000002.10:g.67718105T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001739524.1:n.65+13497A>C