Canonical Allele Identifier: CA908188330
Gene:

Linked Data

dbSNP Id: rs1387528460
gnomAD v3: 3-53056926-A-G
gnomAD v4: 3-53056926-A-G
MyVariant Identifiers: chr3:g.53090942A>G (hg19) chr3:g.53056926A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056926A>G , CM000665.2:g.53056926A>G GRCh38
NC_000003.11:g.53090942A>G , CM000665.1:g.53090942A>G GRCh37
NC_000003.10:g.53065982A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9687T>C
ENST00000607283.5:c.465-13672T>C
ENST00000607495.5:c.447+20762T>C
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