Canonical Allele Identifier: CA931367396
Gene:

Linked Data

dbSNP Id: rs1848183580
gnomAD v3: 10-94762578-C-T
gnomAD v4: 10-94762578-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762578C>T , CM000672.2:g.94762578C>T GRCh38
NC_000010.10:g.96522335C>T , CM000672.1:g.96522335C>T GRCh37
NC_000010.9:g.96512325C>T NCBI36
NG_008384.2:g.4873C>T
NG_008384.3:g.4898C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000464755.1:c.932-12480C>T ENSP00000483243.1:n.932-12480C>T
Search 100 bp 5'
Search 100 bp 3'