Canonical Allele Identifier: CA202037800
Gene:

Linked Data

dbSNP Id: rs948422786
gnomAD v3: 10-3366833-T-C
gnomAD v4: 10-3366833-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3366833T>C , CM000672.2:g.3366833T>C GRCh38
NC_000010.10:g.3409025T>C , CM000672.1:g.3409025T>C GRCh37
NC_000010.9:g.3399025T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_131187.1:n.162+47977T>C