Canonical Allele Identifier: CA1038177450
Gene:

Linked Data

dbSNP Id: rs1683139591
gnomAD v3: 2-155870154-G-A
gnomAD v4: 2-155870154-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.155870154G>A , CM000664.2:g.155870154G>A GRCh38
NC_000002.11:g.156726666G>A , CM000664.1:g.156726666G>A GRCh37
NC_000002.10:g.156434912G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923501.1:n.320-2967C>T
XR_001739749.1:n.331-29170C>T
XR_001739750.1:n.331-29170C>T
XR_001739751.1:n.331-29170C>T
XR_923501.2:n.331-2967C>T
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