Canonical Allele Identifier: CA2536472841
Gene:

Linked Data

gnomAD v4: 1-193121718-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121718C>G , CM000663.2:g.193121718C>G GRCh38
NC_000001.10:g.193090848C>G , CM000663.1:g.193090848C>G GRCh37
NC_000001.9:g.191357471C>G NCBI36
NG_012691.1:g.4761C>G , LRG_507:g.4761C>G

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1939G>C
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