Canonical Allele Identifier: CA15259726
Gene:

Linked Data

dbSNP Id: rs5743836
gnomAD v2: 3-52260782-A-G
gnomAD v3: 3-52226766-A-G
gnomAD v4: 3-52226766-A-G
MyVariant Identifiers: chr3:g.52260782A>G (hg19) chr3:g.52226766A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52226766A>G , CM000665.2:g.52226766A>G GRCh38
NC_000003.11:g.52260782A>G , CM000665.1:g.52260782A>G GRCh37
NC_000003.10:g.52235822A>G NCBI36
NG_033933.1:g.4398T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000478201.1:c.114-1131T>C
ENST00000494383.1:c.464-2454T>C
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