Canonical Allele Identifier: CA683994877
Gene:

Linked Data

dbSNP Id: rs1227657010
gnomAD v3: 12-115398722-T-G
gnomAD v4: 12-115398722-T-G
MyVariant Identifiers: chr12:g.115836527T>G (hg19) chr12:g.115398722T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115398722T>G , CM000674.2:g.115398722T>G GRCh38
NC_000012.11:g.115836527T>G , CM000674.1:g.115836527T>G GRCh37
NC_000012.10:g.114320910T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945389.1:n.697+8373A>C
XR_945389.2:n.701+8373A>C
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