Canonical Allele Identifier: CA1480021905
Gene:

Linked Data

dbSNP Id: rs1578173444
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474200C>T , CM000666.2:g.99474200C>T GRCh38
NC_000004.11:g.100395357C>T , CM000666.1:g.100395357C>T GRCh37
NC_000004.10:g.100614380C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.243-2338G>A
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