Canonical Allele Identifier: CA1595159314
Gene:

Linked Data

dbSNP Id: rs1757452220
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159580886G>A , CM000667.2:g.159580886G>A GRCh38
NC_000005.9:g.159007894G>A , CM000667.1:g.159007894G>A GRCh37
NC_000005.8:g.158940472G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_941139.1:n.2075+451G>A
XR_941140.1:n.2075+451G>A
XR_941141.1:n.570+451G>A
XR_941139.2:n.2229+451G>A
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