Canonical Allele Identifier: CA527707463
Gene:

Linked Data

dbSNP Id: rs1257883578
gnomAD v2: 1-193090871-A-G
gnomAD v4: 1-193121741-A-G
MyVariant Identifiers: chr1:g.193090871A>G (hg19) chr1:g.193121741A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121741A>G , CM000663.2:g.193121741A>G GRCh38
NC_000001.10:g.193090871A>G , CM000663.1:g.193090871A>G GRCh37
NC_000001.9:g.191357494A>G NCBI36
NG_012691.1:g.4784A>G , LRG_507:g.4784A>G

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1916T>C
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