Canonical Allele Identifier: CA93117924
Gene:

Linked Data

dbSNP Id: rs1022857070
gnomAD v2: 4-12579902-G-A
gnomAD v3: 4-12578278-G-A
gnomAD v4: 4-12578278-G-A
MyVariant Identifiers: chr4:g.12579902G>A (hg19) chr4:g.12578278G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578278G>A , CM000666.2:g.12578278G>A GRCh38
NC_000004.11:g.12579902G>A , CM000666.1:g.12579902G>A GRCh37
NC_000004.10:g.12189000G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925406.1:n.106+31064C>T
XR_001741374.1:n.254+44377C>T
XR_925406.3:n.140+31064C>T
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