Canonical Allele Identifier: CA1048601991
Gene:

Linked Data

dbSNP Id: rs2041752461
gnomAD v3: 3-61427985-G-C
gnomAD v4: 3-61427985-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.61427985G>C , CM000665.2:g.61427985G>C GRCh38
NC_000003.11:g.61413659G>C , CM000665.1:g.61413659G>C GRCh37
NC_000003.10:g.61388699G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940892.1:n.165-299C>G
XR_940893.1:n.164+529C>G
XR_001740725.1:n.202+529C>G
XR_940892.2:n.203-299C>G
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