Canonical Allele Identifier: CA232154633
Gene:

Linked Data

dbSNP Id: rs12827476
gnomAD v2: 12-4305883-T-C
gnomAD v3: 12-4196717-T-C
gnomAD v4: 12-4196717-T-C
MyVariant Identifiers: chr12:g.4305883T>C (hg19) chr12:g.4196717T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4196717T>C , CM000674.2:g.4196717T>C GRCh38
NC_000012.11:g.4305883T>C , CM000674.1:g.4305883T>C GRCh37
NC_000012.10:g.4176144T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_931569.1:n.196+7020A>G
XR_931569.2:n.214+7020A>G
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