Canonical Allele Identifier: CA1036161517
Gene:

Linked Data

dbSNP Id: rs1688785087
gnomAD v3: 2-127431577-C-A
gnomAD v4: 2-127431577-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127431577C>A , CM000664.2:g.127431577C>A GRCh38
NC_000002.11:g.128189153C>A , CM000664.1:g.128189153C>A GRCh37
NC_000002.10:g.127905623C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_923313.1:n.1331+90G>T
XR_001739705.1:n.3607-3313G>T
XR_923313.2:n.4042+90G>T
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