Canonical Allele Identifier: CA908188515
Gene:

Linked Data

dbSNP Id: rs1214136233
gnomAD v3: 3-53057244-G-A
gnomAD v4: 3-53057244-G-A
MyVariant Identifiers: chr3:g.53091260G>A (hg19) chr3:g.53057244G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057244G>A , CM000665.2:g.53057244G>A GRCh38
NC_000003.11:g.53091260G>A , CM000665.1:g.53091260G>A GRCh37
NC_000003.10:g.53066300G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-10005C>T
ENST00000607283.5:c.465-13990C>T
ENST00000607495.5:c.447+20444C>T
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