Canonical Allele Identifier: CA2581346887
Gene:
gnomAD v3:
18:49632720 A / T
gnomAD v4:
chr18-49632720-A-T
Joint Max Group AF 0.00007301 (SAS)
Genomes Max Group AF 0.00007301 (SAS)
dbSNP:
7240405
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49632720A>T , CM000680.2:g.49632720A>T GRCh38
NC_000018.9:g.47159090A>T , CM000680.1:g.47159090A>T GRCh37
NC_000018.8:g.45413088A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935461.1:n.161+19851A>T
XR_001753446.1:n.897+19851A>T
Search 100 bp 5'
Search 100 bp 3'