Canonical Allele Identifier: CA1069332462
Gene:

Linked Data

dbSNP Id: rs191468572
gnomAD v3: 4-148649677-G-C
gnomAD v4: 4-148649677-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148649677G>C , CM000666.2:g.148649677G>C GRCh38
NC_000004.11:g.149570829G>C , CM000666.1:g.149570829G>C GRCh37
NC_000004.10:g.149790279G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939336.1:n.436+30655C>G
XR_001741441.1:n.1745+105093G>C
XR_939336.3:n.2920+30655C>G
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