Canonical Allele Identifier: CA2705801416
Gene:

Linked Data

dbSNP Id: rs1030108512
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228551C>G , CM000666.2:g.54228551C>G GRCh38
NC_000004.11:g.55094718C>G , CM000666.1:g.55094718C>G GRCh37
NC_000004.10:g.54789475C>G NCBI36
NG_009250.1:g.4455C>G , LRG_309:g.4455C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46374C>G ENSP00000423325.1:n.1018-46374C>G
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