Canonical Allele Identifier: CA309525541
Gene:
COSMIC:
COSN15330660 (not active)
COSN19654128 (not active)
MyVariant.info:
GRCh38 chr19:g.49720009G>A
GRCh37 chr19:g.50223266G>A
gnomAD v2:
19:50223266 G / A
gnomAD v3:
19:49720009 G / A
gnomAD v4:
chr19-49720009-G-A
Joint Max Group AF 0.17216712 (EAS)
Genomes Max Group AF 0.15005792 (EAS)
Exomes Max Group AF 0.1740593 (EAS)
dbSNP:
3810265
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49720009G>A , CM000681.2:g.49720009G>A GRCh38
NC_000019.9:g.50223266G>A , CM000681.1:g.50223266G>A GRCh37
NC_000019.8:g.54915078G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000498085.1:n.73C>T
Search 100 bp 5'
Search 100 bp 3'