Canonical Allele Identifier: CA1109769926
Gene:

Linked Data

dbSNP Id: rs1799898372
gnomAD v3: 8-2883017-G-T
gnomAD v4: 8-2883017-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.2883017G>T , CM000670.2:g.2883017G>T GRCh38
NC_000008.10:g.2740539G>T , CM000670.1:g.2740539G>T GRCh37
NC_000008.9:g.2727946G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941367.1:n.212-42748G>T
NR_168441.1:n.1166+45253G>T
NR_168442.1:n.1331-33318G>T
NR_168443.1:n.1171+45253G>T
NR_168444.1:n.1166+45253G>T
NR_168445.1:n.1249+45170G>T
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