Canonical Allele Identifier: CA690762870
Gene:

Linked Data

dbSNP Id: rs1227572784
gnomAD v3: 12-6276629-T-C
gnomAD v4: 12-6276629-T-C
MyVariant Identifiers: chr12:g.6385795T>C (hg19) chr12:g.6276629T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6276629T>C , CM000674.2:g.6276629T>C GRCh38
NC_000012.11:g.6385795T>C , CM000674.1:g.6385795T>C GRCh37
NC_000012.10:g.6256056T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001748976.1:n.157+16470A>G
XR_001748977.1:n.157+16470A>G
XR_001748978.1:n.157+16470A>G
XR_001748979.1:n.157+16470A>G
XR_001748980.1:n.157+16470A>G
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