Canonical Allele Identifier: CA1929213256
Gene:

Linked Data

dbSNP Id: rs1848181371
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762432T>G , CM000672.2:g.94762432T>G GRCh38
NC_000010.10:g.96522189T>G , CM000672.1:g.96522189T>G GRCh37
NC_000010.9:g.96512179T>G NCBI36
NG_008384.2:g.4727T>G
NG_008384.3:g.4752T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000464755.1:c.932-12626T>G ENSP00000483243.1:n.932-12626T>G
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