Canonical Allele Identifier: CA12248892
Gene:
COSMIC:
COSN14869697 (not active)
MyVariant.info:
GRCh38 chr6:g.126645162T>C
GRCh37 chr6:g.126966308T>C
gnomAD v2:
6:126966308 T / C
gnomAD v3:
6:126645162 T / C
gnomAD v4:
chr6-126645162-T-C
Joint Max Group AF 0.95266599 (EAS)
Genomes Max Group AF 0.95266599 (EAS)
dbSNP:
4549631
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.126645162T>C , CM000668.2:g.126645162T>C GRCh38
NC_000006.11:g.126966308T>C , CM000668.1:g.126966308T>C GRCh37
NC_000006.10:g.127008001T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650727.1:n.1167-23289A>G
ENST00000651326.1:n.694-41697A>G
ENST00000652545.1:n.1477-23289A>G
Search 100 bp 5'
Search 100 bp 3'