Canonical Allele Identifier: CA244637507
Gene:

Linked Data

dbSNP Id: rs761943916
gnomAD v2: 12-115836424-C-A
gnomAD v3: 12-115398619-C-A
gnomAD v4: 12-115398619-C-A
MyVariant Identifiers: chr12:g.115836424C>A (hg19) chr12:g.115398619C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115398619C>A , CM000674.2:g.115398619C>A GRCh38
NC_000012.11:g.115836424C>A , CM000674.1:g.115836424C>A GRCh37
NC_000012.10:g.114320807C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945389.1:n.697+8476G>T
XR_945389.2:n.701+8476G>T
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