Canonical Allele Identifier: CA16841565
Gene:

Linked Data

dbSNP Id: rs536200315
gnomAD v2: 1-1967786-C-T
gnomAD v3: 1-2036347-C-T
gnomAD v4: 1-2036347-C-T
MyVariant Identifiers: chr1:g.1967786C>T (hg19) chr1:g.2036347C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2036347C>T , CM000663.2:g.2036347C>T GRCh38
NC_000001.10:g.1967786C>T , CM000663.1:g.1967786C>T GRCh37
NC_000001.9:g.1957646C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_946823.1:n.773+88G>A
XR_001737845.2:n.864G>A
XR_946823.3:n.776+88G>A
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