Canonical Allele Identifier: CA14509598
Gene:

Linked Data

dbSNP Id: rs4796883
gnomAD v2: 18-10321198-G-A
gnomAD v3: 18-10321201-G-A
gnomAD v4: 18-10321201-G-A
MyVariant Identifiers: chr18:g.10321198G>A (hg19) chr18:g.10321201G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10321201G>A , CM000680.2:g.10321201G>A GRCh38
NC_000018.9:g.10321198G>A , CM000680.1:g.10321198G>A GRCh37
NC_000018.8:g.10311198G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935138.1:n.665+947C>T
XR_001753344.1:n.650+947C>T
XR_001753345.1:n.920C>T
XR_001753346.1:n.549+947C>T
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