Canonical Allele Identifier: CA10655800
Gene:
MyVariant.info:
GRCh38 chr1:g.2569899C>T
GRCh37 chr1:g.2501338C>T
gnomAD v2:
1:2501338 C / T
gnomAD v3:
1:2569899 C / T
gnomAD v4:
chr1-2569899-C-T
Joint Max Group AF 0.6387021 (SAS)
Genomes Max Group AF 0.63876278 (SAS)
Exomes Max Group AF 0.17136067 (NFE)
dbSNP:
10797432
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2569899C>T , CM000663.2:g.2569899C>T GRCh38
NC_000001.10:g.2501338C>T , CM000663.1:g.2501338C>T GRCh37
NC_000001.9:g.2491198C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_121638.1:n.71+3294C>T
XR_946834.1:n.1945C>T
Search 100 bp 5'
Search 100 bp 3'