Canonical Allele Identifier: CA36160714
Gene:

Linked Data

dbSNP Id: rs563620216
gnomAD v3: 1-198500018-C-T
gnomAD v4: 1-198500018-C-T
MyVariant Identifiers: chr1:g.198469148C>T (hg19) chr1:g.198500018C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.198500018C>T , CM000663.2:g.198500018C>T GRCh38
NC_000001.10:g.198469148C>T , CM000663.1:g.198469148C>T GRCh37
NC_000001.9:g.196735771C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922398.1:n.679+19533G>A
XR_922398.2:n.341+19533G>A
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