Canonical Allele Identifier: CA1011892622
Gene:

Linked Data

dbSNP Id: rs1703723967
gnomAD v3: 1-211379671-T-G
gnomAD v4: 1-211379671-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.211379671T>G , CM000663.2:g.211379671T>G GRCh38
NC_000001.10:g.211553013T>G , CM000663.1:g.211553013T>G GRCh37
NC_000001.9:g.209619636T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001738446.1:n.291+2524A>C
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