Canonical Allele Identifier: CA908188331
Gene:

Linked Data

dbSNP Id: rs1157347993
gnomAD v3: 3-53056933-C-T
gnomAD v4: 3-53056933-C-T
MyVariant Identifiers: chr3:g.53090949C>T (hg19) chr3:g.53056933C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056933C>T , CM000665.2:g.53056933C>T GRCh38
NC_000003.11:g.53090949C>T , CM000665.1:g.53090949C>T GRCh37
NC_000003.10:g.53065989C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9694G>A
ENST00000607283.5:c.465-13679G>A
ENST00000607495.5:c.447+20755G>A
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