Canonical Allele Identifier: CA74805339
Gene:

Linked Data

dbSNP Id: rs186755074
gnomAD v2: 3-53091273-G-T
gnomAD v3: 3-53057257-G-T
gnomAD v4: 3-53057257-G-T
MyVariant Identifiers: chr3:g.53091273G>T (hg19) chr3:g.53057257G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057257G>T , CM000665.2:g.53057257G>T GRCh38
NC_000003.11:g.53091273G>T , CM000665.1:g.53091273G>T GRCh37
NC_000003.10:g.53066313G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-10018C>A
ENST00000607283.5:c.465-14003C>A
ENST00000607495.5:c.447+20431C>A
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