Canonical Allele Identifier: CA240569175
Gene:

Linked Data

dbSNP Id: rs971919454
gnomAD v2: 12-80463087-T-C
gnomAD v3: 12-80069307-T-C
gnomAD v4: 12-80069307-T-C
MyVariant Identifiers: chr12:g.80463087T>C (hg19) chr12:g.80069307T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80069307T>C , CM000674.2:g.80069307T>C GRCh38
NC_000012.11:g.80463087T>C , CM000674.1:g.80463087T>C GRCh37
NC_000012.10:g.78987218T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945140.1:n.456+8125T>C
XR_945141.1:n.1758+8125T>C
Search 100 bp 5'
Search 100 bp 3'