Canonical Allele Identifier: CA1031800242
Gene:

Linked Data

dbSNP Id: rs1672711849
gnomAD v3: 2-67637531-A-C
gnomAD v4: 2-67637531-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.67637531A>C , CM000664.2:g.67637531A>C GRCh38
NC_000002.11:g.67864663A>C , CM000664.1:g.67864663A>C GRCh37
NC_000002.10:g.67718167A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001739524.1:n.65+13435T>G