Canonical Allele Identifier: CA2000589930
Gene:

Linked Data

dbSNP Id: rs1866693149
gnomAD v3: 11-112164634-T-C
gnomAD v4: 11-112164634-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164634T>C , CM000673.2:g.112164634T>C GRCh38
NC_000011.9:g.112035357T>C , CM000673.1:g.112035357T>C GRCh37
NC_000011.8:g.111540567T>C NCBI36
NG_028143.1:g.4484A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525987.5:n.320-5785T>C
ENST00000531744.5:c.315-5785T>C ENSP00000456957.1:n.315-5785T>C
ENST00000532699.1:c.315-5785T>C ENSP00000456434.1:n.315-5785T>C
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