Canonical Allele Identifier: CA564088967
Gene:

Linked Data

dbSNP Id: rs1477275929
gnomAD v2: 5-159007856-T-C
gnomAD v3: 5-159580848-T-C
gnomAD v4: 5-159580848-T-C
MyVariant Identifiers: chr5:g.159007856T>C (hg19) chr5:g.159580848T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159580848T>C , CM000667.2:g.159580848T>C GRCh38
NC_000005.9:g.159007856T>C , CM000667.1:g.159007856T>C GRCh37
NC_000005.8:g.158940434T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_941139.1:n.2075+413T>C
XR_941140.1:n.2075+413T>C
XR_941141.1:n.570+413T>C
XR_941139.2:n.2229+413T>C
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