Canonical Allele Identifier: CA1757932430
Gene:

Linked Data

dbSNP Id: rs1799458572
gnomAD v3: 8-2180605-C-T
gnomAD v4: 8-2180605-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.2180605C>T , CM000670.2:g.2180605C>T GRCh38
NC_000008.9:g.2116215C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_941356.1:n.112-12330C>T
XR_941355.2:n.133-3419C>T
XR_941356.2:n.133-12330C>T
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