Canonical Allele Identifier: CA564088944
Gene:

Linked Data

dbSNP Id: rs1280174538
gnomAD v2: 5-159007764-G-A
gnomAD v3: 5-159580756-G-A
gnomAD v4: 5-159580756-G-A
MyVariant Identifiers: chr5:g.159007764G>A (hg19) chr5:g.159580756G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159580756G>A , CM000667.2:g.159580756G>A GRCh38
NC_000005.9:g.159007764G>A , CM000667.1:g.159007764G>A GRCh37
NC_000005.8:g.158940342G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941139.1:n.2075+321G>A
XR_941140.1:n.2075+321G>A
XR_941141.1:n.570+321G>A
XR_941139.2:n.2229+321G>A
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