Canonical Allele Identifier: CA977658935
Gene:

Linked Data

dbSNP Id: rs1960020787
gnomAD v3: 16-56610654-T-G
gnomAD v4: 16-56610654-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56610654T>G , CM000678.2:g.56610654T>G GRCh38
NC_000016.9:g.56644566T>G , CM000678.1:g.56644566T>G GRCh37
NC_000016.8:g.55202067T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_933616.1:n.605+662A>C
Search 100 bp 5'
Search 100 bp 3'