Canonical Allele Identifier: CA202037798
Gene:

Linked Data

dbSNP Id: rs1054154682
gnomAD v2: 10-3408954-T-C
gnomAD v3: 10-3366762-T-C
gnomAD v4: 10-3366762-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3366762T>C , CM000672.2:g.3366762T>C GRCh38
NC_000010.10:g.3408954T>C , CM000672.1:g.3408954T>C GRCh37
NC_000010.9:g.3398954T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_131187.1:n.162+47906T>C