Canonical Allele Identifier: CA687224703
Gene:

Linked Data

dbSNP Id: rs1291381917
gnomAD v3: 12-29961028-T-A
gnomAD v4: 12-29961028-T-A
MyVariant Identifiers: chr12:g.30113961T>A (hg19) chr12:g.29961028T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.29961028T>A , CM000674.2:g.29961028T>A GRCh38
NC_000012.11:g.30113961T>A , CM000674.1:g.30113961T>A GRCh37
NC_000012.10:g.30005228T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_931473.1:n.314-17988A>T
XR_931474.1:n.314-17988A>T
XR_931475.1:n.135-17988A>T
XR_001749060.1:n.314-17988A>T
XR_001749061.1:n.314-17988A>T
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