Canonical Allele Identifier: CA1458504918
Gene:

Linked Data

dbSNP Id: rs1720490481
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228594C>T , CM000666.2:g.54228594C>T GRCh38
NC_000004.11:g.55094761C>T , CM000666.1:g.55094761C>T GRCh37
NC_000004.10:g.54789518C>T NCBI36
NG_009250.1:g.4498C>T , LRG_309:g.4498C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46331C>T ENSP00000423325.1:n.1018-46331C>T
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