Canonical Allele Identifier: CA849825957
Gene:

Linked Data

dbSNP Id: rs1156675695
gnomAD v3: 8-2180595-G-A
gnomAD v4: 8-2180595-G-A
MyVariant Identifiers: chr8:g.2180595G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.2180595G>A , CM000670.2:g.2180595G>A GRCh38
NC_000008.9:g.2116205G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_941356.1:n.112-12340G>A
XR_941355.2:n.133-3429G>A
XR_941356.2:n.133-12340G>A
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