Canonical Allele Identifier: CA115007
Gene:
MyVariant.info:
GRCh38 chr14:g.92307319G>T
GRCh37 chr14:g.92773663G>T
gnomAD v2:
14:92773663 G / T
gnomAD v3:
14:92307319 G / T
gnomAD v4:
chr14-92307319-G-T
Joint Max Group AF 0.43632777 (NFE)
Genomes Max Group AF 0.43632777 (NFE)
ClinVar RCV:
RCV000001485
ClinVar Variation:
1420
dbSNP:
12896399
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92307319G>T , CM000676.2:g.92307319G>T GRCh38
NC_000014.8:g.92773663G>T , CM000676.1:g.92773663G>T GRCh37
NC_000014.7:g.91843416G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_944153.1:n.131+2775G>T
Search 100 bp 5'
Search 100 bp 3'