Canonical Allele Identifier: CA1038177457
Gene:

Linked Data

dbSNP Id: rs1683139847
gnomAD v3: 2-155870164-C-A
gnomAD v4: 2-155870164-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.155870164C>A , CM000664.2:g.155870164C>A GRCh38
NC_000002.11:g.156726676C>A , CM000664.1:g.156726676C>A GRCh37
NC_000002.10:g.156434922C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923501.1:n.320-2977G>T
XR_001739749.1:n.331-29180G>T
XR_001739750.1:n.331-29180G>T
XR_001739751.1:n.331-29180G>T
XR_923501.2:n.331-2977G>T
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