Canonical Allele Identifier: CA692339877
Gene:

Linked Data

dbSNP Id: rs1473572315
gnomAD v3: 12-80069238-T-C
gnomAD v4: 12-80069238-T-C
MyVariant Identifiers: chr12:g.80463018T>C (hg19) chr12:g.80069238T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80069238T>C , CM000674.2:g.80069238T>C GRCh38
NC_000012.11:g.80463018T>C , CM000674.1:g.80463018T>C GRCh37
NC_000012.10:g.78987149T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945140.1:n.456+8056T>C
XR_945141.1:n.1758+8056T>C
Search 100 bp 5'
Search 100 bp 3'