Canonical Allele Identifier: CA15957593
Gene:
COSMIC:
COSN26729257 (not active)
MyVariant.info:
GRCh38 chr19:g.39679413G>A
GRCh37 chr19:g.40170053G>A
gnomAD v2:
19:40170053 G / A
gnomAD v3:
19:39679413 G / A
gnomAD v4:
chr19-39679413-G-A
Joint Max Group AF 0.47662262 (AMR)
Genomes Max Group AF 0.47647864 (AMR)
Exomes Max Group AF 0.33173481 (AMR)
dbSNP:
8103033
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.39679413G>A , CM000681.2:g.39679413G>A GRCh38
NC_000019.9:g.40170053G>A , CM000681.1:g.40170053G>A GRCh37
NC_000019.8:g.44861893G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000598164.3:n.40G>A
ENST00000412609.5:n.40G>A
ENST00000458539.5:n.21G>A
ENST00000598304.5:n.21G>A
ENST00000598736.5:n.21G>A
NR_034156.1:n.40G>A
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