Canonical Allele Identifier: CA527707481
Gene:

Linked Data

dbSNP Id: rs1456898570
gnomAD v2: 1-193090906-G-A
gnomAD v3: 1-193121776-G-A
gnomAD v4: 1-193121776-G-A
MyVariant Identifiers: chr1:g.193090906G>A (hg19) chr1:g.193121776G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121776G>A , CM000663.2:g.193121776G>A GRCh38
NC_000001.10:g.193090906G>A , CM000663.1:g.193090906G>A GRCh37
NC_000001.9:g.191357529G>A NCBI36
NG_012691.1:g.4819G>A , LRG_507:g.4819G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1881C>T
Search 100 bp 5'
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