Canonical Allele Identifier: CA37327611
Gene:

Linked Data

dbSNP Id: rs765561068
gnomAD v3: 1-213682249-A-C
gnomAD v4: 1-213682249-A-C
MyVariant Identifiers: chr1:g.213855592A>C (hg19) chr1:g.213682249A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.213682249A>C , CM000663.2:g.213682249A>C GRCh38
NC_000001.10:g.213855592A>C , CM000663.1:g.213855592A>C GRCh37
NC_000001.9:g.211922215A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001738463.1:n.601-49168A>C
XR_001738464.1:n.426-49168A>C
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