Canonical Allele Identifier: CA16522757
Gene:

Linked Data

dbSNP Id: rs16946931
gnomAD v2: 16-49142506-T-C
gnomAD v3: 16-49108595-T-C
gnomAD v4: 16-49108595-T-C
MyVariant Identifiers: chr16:g.49142506T>C (hg19) chr16:g.49108595T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108595T>C , CM000678.2:g.49108595T>C GRCh38
NC_000016.9:g.49142506T>C , CM000678.1:g.49142506T>C GRCh37
NC_000016.8:g.47700007T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_933517.1:n.810+1349A>G
XR_001752138.2:n.591+5381A>G
XR_933517.2:n.810+1349A>G
Search 100 bp 5'
Search 100 bp 3'