Canonical Allele Identifier: CA127628850
Gene:

Linked Data

dbSNP Id: rs939677640
gnomAD v3: 5-129386840-C-G
gnomAD v4: 5-129386840-C-G
MyVariant Identifiers: chr5:g.128722533C>G (hg19) chr5:g.129386840C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.129386840C>G , CM000667.2:g.129386840C>G GRCh38
NC_000005.9:g.128722533C>G , CM000667.1:g.128722533C>G GRCh37
NC_000005.8:g.128750432C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427770.2:n.163-1608C>G
XR_948774.1:n.235-5811C>G
XR_001742463.1:n.4089-1608C>G
XR_001742464.1:n.2019-5811C>G
XR_001742465.1:n.401-1608C>G
XR_427770.3:n.337-1608C>G
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