Canonical Allele Identifier: CA629855473
Gene:

Linked Data

dbSNP Id: rs1247616844
gnomAD v2: 18-47172224-C-A
gnomAD v3: 18-49645854-C-A
gnomAD v4: 18-49645854-C-A
MyVariant Identifiers: chr18:g.47172224C>A (hg19) chr18:g.49645854C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49645854C>A , CM000680.2:g.49645854C>A GRCh38
NC_000018.9:g.47172224C>A , CM000680.1:g.47172224C>A GRCh37
NC_000018.8:g.45426222C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_935461.1:n.162-16180C>A
XR_001753446.1:n.898-16180C>A
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