Canonical Allele Identifier: CA527707468
Gene:

Linked Data

dbSNP Id: rs986536409
gnomAD v2: 1-193090876-G-A
gnomAD v3: 1-193121746-G-A
gnomAD v4: 1-193121746-G-A
MyVariant Identifiers: chr1:g.193090876G>A (hg19) chr1:g.193121746G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121746G>A , CM000663.2:g.193121746G>A GRCh38
NC_000001.10:g.193090876G>A , CM000663.1:g.193090876G>A GRCh37
NC_000001.9:g.191357499G>A NCBI36
NG_012691.1:g.4789G>A , LRG_507:g.4789G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1911C>T
Search 100 bp 5'
Search 100 bp 3'