Canonical Allele Identifier: CA12248876
Gene:
COSMIC:
COSN14831288 (not active)
COSN14979235 (not active)
MyVariant.info:
GRCh38 chr6:g.126514509C>T
GRCh37 chr6:g.126835655C>T
gnomAD v2:
6:126835655 C / T
gnomAD v3:
6:126514509 C / T
gnomAD v4:
chr6-126514509-C-T
Joint Max Group AF 0.95162762 (EAS)
Genomes Max Group AF 0.95162762 (EAS)
dbSNP:
1490388
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.126514509C>T , CM000668.2:g.126514509C>T GRCh38
NC_000006.11:g.126835655C>T , CM000668.1:g.126835655C>T GRCh37
NC_000006.10:g.126877348C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650727.1:n.3037-16984G>A
ENST00000651326.1:n.2290-41915G>A
ENST00000652383.1:n.630+17154G>A
ENST00000652545.1:n.3347-16984G>A
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