Canonical Allele Identifier: CA1048013649
Gene:

Linked Data

dbSNP Id: rs1700426907
gnomAD v3: 3-53056884-T-C
gnomAD v4: 3-53056884-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056884T>C , CM000665.2:g.53056884T>C GRCh38
NC_000003.11:g.53090900T>C , CM000665.1:g.53090900T>C GRCh37
NC_000003.10:g.53065940T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9645A>G
ENST00000607283.5:c.465-13630A>G
ENST00000607495.5:c.447+20804A>G
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