Canonical Allele Identifier: CA2706101208
Gene:

Linked Data

dbSNP Id: rs2110156602
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228513A>C , CM000666.2:g.54228513A>C GRCh38
NC_000004.11:g.55094680A>C , CM000666.1:g.55094680A>C GRCh37
NC_000004.10:g.54789437A>C NCBI36
NG_009250.1:g.4417A>C , LRG_309:g.4417A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46412A>C ENSP00000423325.1:n.1018-46412A>C
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