Canonical Allele Identifier: CA1048013661
Gene:

Linked Data

dbSNP Id: rs1700427438
gnomAD v3: 3-53056975-A-G
gnomAD v4: 3-53056975-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056975A>G , CM000665.2:g.53056975A>G GRCh38
NC_000003.11:g.53090991A>G , CM000665.1:g.53090991A>G GRCh37
NC_000003.10:g.53066031A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9736T>C
ENST00000607283.5:c.465-13721T>C
ENST00000607495.5:c.447+20713T>C
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