Canonical Allele Identifier: CA33578921
Gene:

Linked Data

dbSNP Id: rs12760731
gnomAD v2: 1-178471222-C-T
gnomAD v3: 1-178502087-C-T
gnomAD v4: 1-178502087-C-T
MyVariant Identifiers: chr1:g.178471222C>T (hg19) chr1:g.178502087C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.178502087C>T , CM000663.2:g.178502087C>T GRCh38
NC_000001.10:g.178471222C>T , CM000663.1:g.178471222C>T GRCh37
NC_000001.9:g.176737845C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001738305.1:n.1247-546G>A
XR_001738306.1:n.1245-546G>A
XR_001738307.1:n.933-546G>A
XR_922305.2:n.1250-546G>A
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