Canonical Allele Identifier: CA1057930180
Gene:
gnomAD v3:
3:193865921 G / C
gnomAD v4:
chr3-193865921-G-C
Joint Max Group AF 0.00000488 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
dbSNP:
604222
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193865921G>C , CM000665.2:g.193865921G>C GRCh38
NC_000003.11:g.193583710G>C , CM000665.1:g.193583710G>C GRCh37
NC_000003.10:g.195066404G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741075.1:n.2311-13304C>G
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