Canonical Allele Identifier: CA730295498
Gene:

Linked Data

dbSNP Id: rs1224672971
gnomAD v3: 1-2036378-C-T
gnomAD v4: 1-2036378-C-T
MyVariant Identifiers: chr1:g.1967817C>T (hg19) chr1:g.2036378C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2036378C>T , CM000663.2:g.2036378C>T GRCh38
NC_000001.10:g.1967817C>T , CM000663.1:g.1967817C>T GRCh37
NC_000001.9:g.1957677C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_946823.1:n.773+57G>A
XR_001737845.2:n.833G>A
XR_946823.3:n.776+57G>A
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