Canonical Allele Identifier: CA145511530
Gene:

Linked Data

dbSNP Id: rs898662236
gnomAD v2: 6-106253000-G-A
gnomAD v3: 6-105805125-G-A
gnomAD v4: 6-105805125-G-A
MyVariant Identifiers: chr6:g.106253000G>A (hg19) chr6:g.105805125G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.105805125G>A , CM000668.2:g.105805125G>A GRCh38
NC_000006.11:g.106253000G>A , CM000668.1:g.106253000G>A GRCh37
NC_000006.10:g.106359693G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_942835.1:n.510+24932C>T
XR_001744274.1:n.438+24932C>T
XR_001744275.1:n.337+24932C>T
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