Canonical Allele Identifier: CA39048863
Gene:
COSMIC:
COSN6444999 (not active)
MyVariant.info:
GRCh38 chr1:g.225713304A>G
GRCh37 chr1:g.225901006A>G
gnomAD v2:
1:225901006 A / G
gnomAD v3:
1:225713304 A / G
gnomAD v4:
chr1-225713304-A-G
Joint Max Group AF 0.25153116 (EAS)
Genomes Max Group AF 0.25153116 (EAS)
dbSNP:
10915864
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.225713304A>G , CM000663.2:g.225713304A>G GRCh38
NC_000001.10:g.225901006A>G , CM000663.1:g.225901006A>G GRCh37
NC_000001.9:g.223967629A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_426933.2:n.480+2736A>G
XR_949209.1:n.481-2720A>G
XR_001738498.1:n.385+2736A>G
XR_426933.3:n.1488+2736A>G
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