Canonical Allele Identifier: CA173996798
Gene:

Linked Data

dbSNP Id: rs1512268
gnomAD v2: 8-23526463-T-C
gnomAD v3: 8-23668950-T-C
gnomAD v4: 8-23668950-T-C
MyVariant Identifiers: chr8:g.23526463T>C (hg19) chr8:g.23668950T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23668950T>C , CM000670.2:g.23668950T>C GRCh38
NC_000008.10:g.23526463T>C , CM000670.1:g.23526463T>C GRCh37
NC_000008.9:g.23582408T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745840.1:n.1512T>C
XR_001745841.1:n.890T>C
XR_001745842.1:n.1312+200T>C
XR_001745843.1:n.1086T>C
Search 100 bp 5'
Search 100 bp 3'