Canonical Allele Identifier: CA846669332
Gene:

Linked Data

dbSNP Id: rs77335558
gnomAD v3: 8-122396180-A-C
gnomAD v4: 8-122396180-A-C
MyVariant Identifiers: chr8:g.123408419A>C (hg19) chr8:g.122396180A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122396180A>C , CM000670.2:g.122396180A>C GRCh38
NC_000008.10:g.123408419A>C , CM000670.1:g.123408419A>C GRCh37
NC_000008.9:g.123477600A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+2992T>G
XR_928599.3:n.152+2992T>G
Search 100 bp 5'
Search 100 bp 3'