Canonical Allele Identifier: CA10680658
Gene:

Linked Data

dbSNP Id: rs7542900
gnomAD v2: 1-95070041-T-C
gnomAD v3: 1-94604485-T-C
gnomAD v4: 1-94604485-T-C
MyVariant Identifiers: chr1:g.95070041T>C (hg19) chr1:g.94604485T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94604485T>C , CM000663.2:g.94604485T>C GRCh38
NC_000001.10:g.95070041T>C , CM000663.1:g.95070041T>C GRCh37
NC_000001.9:g.94842629T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_947609.1:n.145+5011T>C
XR_001738161.1:n.462-31306T>C
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