Canonical Allele Identifier: CA1028182236
Gene:

Linked Data

dbSNP Id: rs1691636658
gnomAD v3: 2-20485740-C-A
gnomAD v4: 2-20485740-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20485740C>A , CM000664.2:g.20485740C>A GRCh38
NC_000002.11:g.20685501C>A , CM000664.1:g.20685501C>A GRCh37
NC_000002.10:g.20548982C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_157978.1:n.530+2998G>T