Canonical Allele Identifier: CA721212637
Gene:

Linked Data

dbSNP Id: rs566096287
MyVariant Identifiers: chr16:g.49142725C>G (hg19) chr16:g.49108814C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108814C>G , CM000678.2:g.49108814C>G GRCh38
NC_000016.9:g.49142725C>G , CM000678.1:g.49142725C>G GRCh37
NC_000016.8:g.47700226C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1130G>C
XR_001752138.2:n.591+5162G>C
XR_933517.2:n.810+1130G>C
Search 100 bp 5'
Search 100 bp 3'