Canonical Allele Identifier: CA10655811
Gene:
MyVariant.info:
GRCh38 chr1:g.2581777C>T
GRCh37 chr1:g.2513216C>T
gnomAD v2:
1:2513216 C / T
gnomAD v3:
1:2581777 C / T
gnomAD v4:
chr1-2581777-C-T
Joint Max Group AF 0.78781186 (AFR)
Genomes Max Group AF 0.78782567 (AFR)
Exomes Max Group AF 0.26410405 (NFE)
dbSNP:
734999
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2581777C>T , CM000663.2:g.2581777C>T GRCh38
NC_000001.10:g.2513216C>T , CM000663.1:g.2513216C>T GRCh37
NC_000001.9:g.2503076C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_121638.1:n.162+127C>T
Search 100 bp 5'
Search 100 bp 3'