Canonical Allele Identifier: CA564088936
Gene:

Linked Data

dbSNP Id: rs1450772988
gnomAD v2: 5-159007693-G-C
gnomAD v3: 5-159580685-G-C
gnomAD v4: 5-159580685-G-C
MyVariant Identifiers: chr5:g.159007693G>C (hg19) chr5:g.159580685G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159580685G>C , CM000667.2:g.159580685G>C GRCh38
NC_000005.9:g.159007693G>C , CM000667.1:g.159007693G>C GRCh37
NC_000005.8:g.158940271G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_941139.1:n.2075+250G>C
XR_941140.1:n.2075+250G>C
XR_941141.1:n.570+250G>C
XR_941139.2:n.2229+250G>C
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