Canonical Allele Identifier: CA12395025
Gene:
COSMIC:
COSN14771448 (not active)
MyVariant.info:
GRCh38 chr6:g.135219242G>A
GRCh37 chr6:g.135540380G>A
gnomAD v2:
6:135540380 G / A
gnomAD v3:
6:135219242 G / A
gnomAD v4:
chr6-135219242-G-A
Joint Max Group AF 0.87458546 (AFR)
Genomes Max Group AF 0.87479873 (AFR)
Exomes Max Group AF 0.82823521 (AFR)
dbSNP:
210937
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135219242G>A , CM000668.2:g.135219242G>A GRCh38
NC_000006.11:g.135540380G>A , CM000668.1:g.135540380G>A GRCh37
NC_000006.10:g.135582073G>A NCBI36
NG_012330.1:g.42928G>A

Transcript Alleles

HGVS Amino-acid Change
XR_943011.1:n.172-1350C>T
XR_943012.1:n.172-1350C>T
XR_943013.1:n.153-1350C>T
XR_943015.1:n.153-1350C>T
XR_001744368.1:n.177-3742C>T
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