Canonical Allele Identifier: CA12035706
Gene:

Linked Data

dbSNP Id: rs1073203
gnomAD v2: 5-125319456-C-G
gnomAD v3: 5-125983763-C-G
gnomAD v4: 5-125983763-C-G
MyVariant Identifiers: chr5:g.125319456C>G (hg19) chr5:g.125983763C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.125983763C>G , CM000667.2:g.125983763C>G GRCh38
NC_000005.9:g.125319456C>G , CM000667.1:g.125319456C>G GRCh37
NC_000005.8:g.125347355C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948737.1:n.566-3105G>C
XR_948738.1:n.498-3105G>C
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