Canonical Allele Identifier: CA1247519001
Gene:

Linked Data

dbSNP Id: rs1667989308
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534488G>T , CM000664.2:g.41534488G>T GRCh38
NC_000002.11:g.41761628G>T , CM000664.1:g.41761628G>T GRCh37
NC_000002.10:g.41615132G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3238C>A
XR_939997.1:n.146+3238C>A
XR_939997.2:n.9529+3238C>A
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