Canonical Allele Identifier: CA13711430
Gene:

Linked Data

dbSNP Id: rs11115322
gnomAD v2: 12-83019188-T-C
gnomAD v3: 12-82625409-T-C
gnomAD v4: 12-82625409-T-C
MyVariant Identifiers: chr12:g.83019188T>C (hg19) chr12:g.82625409T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.82625409T>C , CM000674.2:g.82625409T>C GRCh38
NC_000012.11:g.83019188T>C , CM000674.1:g.83019188T>C GRCh37
NC_000012.10:g.81543319T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001749145.1:n.225-1104T>C
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