Canonical Allele Identifier: CA1048013652
Gene:

Linked Data

dbSNP Id: rs1700427023
gnomAD v3: 3-53056908-T-G
gnomAD v4: 3-53056908-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056908T>G , CM000665.2:g.53056908T>G GRCh38
NC_000003.11:g.53090924T>G , CM000665.1:g.53090924T>G GRCh37
NC_000003.10:g.53065964T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9669A>C
ENST00000607283.5:c.465-13654A>C
ENST00000607495.5:c.447+20780A>C
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