Canonical Allele Identifier: CA564088966
Gene:

Linked Data

dbSNP Id: rs1260434549
gnomAD v2: 5-159007847-C-T
gnomAD v3: 5-159580839-C-T
gnomAD v4: 5-159580839-C-T
MyVariant Identifiers: chr5:g.159007847C>T (hg19) chr5:g.159580839C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159580839C>T , CM000667.2:g.159580839C>T GRCh38
NC_000005.9:g.159007847C>T , CM000667.1:g.159007847C>T GRCh37
NC_000005.8:g.158940425C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_941139.1:n.2075+404C>T
XR_941140.1:n.2075+404C>T
XR_941141.1:n.570+404C>T
XR_941139.2:n.2229+404C>T
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