Canonical Allele Identifier: CA15237842
Gene: UQCRC2P1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.46310893T>C
GRCh37 chr3:g.46352384T>C
gnomAD v2:
3:46352384 T / C
gnomAD v3:
3:46310893 T / C
gnomAD v4:
chr3-46310893-T-C
Joint Max Group AF 0.84284723 (AFR)
Genomes Max Group AF 0.84277393 (AFR)
Exomes Max Group AF 0.89019215 (NFE)
dbSNP:
6441961
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46310893T>C , CM000665.2:g.46310893T>C GRCh38
NC_000003.11:g.46352384T>C , CM000665.1:g.46352384T>C GRCh37
NC_000003.10:g.46327388T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000417777.1:n.1030A>G
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