Canonical Allele Identifier: CA850516141
Gene:

Linked Data

dbSNP Id: rs1229002485
gnomAD v3: 8-2882982-G-C
gnomAD v4: 8-2882982-G-C
MyVariant Identifiers: chr8:g.2740504G>C (hg19) chr8:g.2882982G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.2882982G>C , CM000670.2:g.2882982G>C GRCh38
NC_000008.10:g.2740504G>C , CM000670.1:g.2740504G>C GRCh37
NC_000008.9:g.2727911G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_941367.1:n.212-42783G>C
NR_168441.1:n.1166+45218G>C
NR_168442.1:n.1331-33353G>C
NR_168443.1:n.1171+45218G>C
NR_168444.1:n.1166+45218G>C
NR_168445.1:n.1249+45135G>C
Search 100 bp 5'
Search 100 bp 3'