Canonical Allele Identifier: CA10654959
Gene:
MyVariant.info:
GRCh38 chr1:g.817341A>G
GRCh37 chr1:g.752721A>G
gnomAD v2:
1:752721 A / G
gnomAD v3:
1:817341 A / G
gnomAD v4:
chr1-817341-A-G
Joint Max Group AF 0.81908601 (NFE)
Genomes Max Group AF 0.8190767 (NFE)
Exomes Max Group AF 0.62771559 (MID)
dbSNP:
3131972
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.817341A>G , CM000663.2:g.817341A>G GRCh38
NC_000001.10:g.752721A>G , CM000663.1:g.752721A>G GRCh37
NC_000001.9:g.742584A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000634337.2:n.127+10329T>C
ENST00000635509.2:n.100+10329T>C
ENST00000447500.4:n.340+32T>C
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