Canonical Allele Identifier: CA1048602006
Gene:

Linked Data

dbSNP Id: rs2041752699
gnomAD v3: 3-61428017-T-C
gnomAD v4: 3-61428017-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.61428017T>C , CM000665.2:g.61428017T>C GRCh38
NC_000003.11:g.61413691T>C , CM000665.1:g.61413691T>C GRCh37
NC_000003.10:g.61388731T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940892.1:n.165-331A>G
XR_940893.1:n.164+497A>G
XR_001740725.1:n.202+497A>G
XR_940892.2:n.203-331A>G
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