Canonical Allele Identifier: CA11584059
Gene:

Linked Data

dbSNP Id: rs12491921
gnomAD v2: 3-106288950-T-C
gnomAD v3: 3-106570103-T-C
gnomAD v4: 3-106570103-T-C
MyVariant Identifiers: chr3:g.106288950T>C (hg19) chr3:g.106570103T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.106570103T>C , CM000665.2:g.106570103T>C GRCh38
NC_000003.11:g.106288950T>C , CM000665.1:g.106288950T>C GRCh37
NC_000003.10:g.107771640T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_427393.2:n.128-11317A>G
XR_002959629.1:n.759-11317A>G
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