Canonical Allele Identifier: CA2730159081
Gene:

Linked Data

dbSNP Id: rs2139949631
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94612250G>A , CM000676.2:g.94612250G>A GRCh38
NC_000014.8:g.95078587G>A , CM000676.1:g.95078587G>A GRCh37
NC_000014.7:g.94148340G>A NCBI36
NG_012879.1:g.4874G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553947.1:c.805-47G>A
Search 100 bp 5'
Search 100 bp 3'