Canonical Allele Identifier: CA129965449
Gene:

Linked Data

dbSNP Id: rs1054247607
gnomAD v3: 5-159580895-G-A
gnomAD v4: 5-159580895-G-A
MyVariant Identifiers: chr5:g.159007903G>A (hg19) chr5:g.159580895G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159580895G>A , CM000667.2:g.159580895G>A GRCh38
NC_000005.9:g.159007903G>A , CM000667.1:g.159007903G>A GRCh37
NC_000005.8:g.158940481G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_941139.1:n.2075+460G>A
XR_941140.1:n.2075+460G>A
XR_941141.1:n.570+460G>A
XR_941139.2:n.2229+460G>A
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