Canonical Allele Identifier: CA12201616
Gene:
COSMIC:
COSN14831980 (not active)
MyVariant.info:
GRCh38 chr6:g.98106018G>A
GRCh37 chr6:g.98553894G>A
gnomAD v2:
6:98553894 G / A
gnomAD v3:
6:98106018 G / A
gnomAD v4:
chr6-98106018-G-A
Joint Max Group AF 0.48012232 (NFE)
Genomes Max Group AF 0.48012232 (NFE)
dbSNP:
1487441
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98106018G>A , CM000668.2:g.98106018G>A GRCh38
NC_000006.11:g.98553894G>A , CM000668.1:g.98553894G>A GRCh37
NC_000006.10:g.98660615G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+6748G>A
XR_942809.1:n.456+6748G>A
Search 100 bp 5'
Search 100 bp 3'