Canonical Allele Identifier: CA542918788
Gene:

Linked Data

dbSNP Id: rs1361818910
gnomAD v2: 3-53090997-G-T
gnomAD v3: 3-53056981-G-T
gnomAD v4: 3-53056981-G-T
MyVariant Identifiers: chr3:g.53090997G>T (hg19) chr3:g.53056981G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056981G>T , CM000665.2:g.53056981G>T GRCh38
NC_000003.11:g.53090997G>T , CM000665.1:g.53090997G>T GRCh37
NC_000003.10:g.53066037G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9742C>A
ENST00000607283.5:c.465-13727C>A
ENST00000607495.5:c.447+20707C>A
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