Canonical Allele Identifier: CA202788777
Gene:

Linked Data

dbSNP Id: rs1032610298
gnomAD v2: 10-8739463-C-T
gnomAD v3: 10-8697500-C-T
gnomAD v4: 10-8697500-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8697500C>T , CM000672.2:g.8697500C>T GRCh38
NC_000010.10:g.8739463C>T , CM000672.1:g.8739463C>T GRCh37
NC_000010.9:g.8779469C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930641.1:n.33-27699G>A