Canonical Allele Identifier: CA10695788
Gene:
MyVariant.info:
GRCh38 chr1:g.192800696C>T
GRCh37 chr1:g.192769826C>T
gnomAD v2:
1:192769826 C / T
gnomAD v3:
1:192800696 C / T
gnomAD v4:
chr1-192800696-C-T
Joint Max Group AF 0.6271498 (EAS)
Genomes Max Group AF 0.61339847 (AFR)
Exomes Max Group AF 0.6348945 (EAS)
dbSNP:
2179652
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.192800696C>T , CM000663.2:g.192800696C>T GRCh38
NC_000001.10:g.192769826C>T , CM000663.1:g.192769826C>T GRCh37
NC_000001.9:g.191036449C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000429211.2:n.126C>T
Search 100 bp 5'
Search 100 bp 3'