Canonical Allele Identifier: CA13705304
Gene:
COSMIC:
COSN6616804 (not active)
MyVariant.info:
GRCh38 chr12:g.6276561C>T
GRCh37 chr12:g.6385727C>T
gnomAD v2:
12:6385727 C / T
gnomAD v3:
12:6276561 C / T
gnomAD v4:
chr12-6276561-C-T
Joint Max Group AF 0.9390569 (SAS)
Genomes Max Group AF 0.9390569 (SAS)
dbSNP:
10849432
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6276561C>T , CM000674.2:g.6276561C>T GRCh38
NC_000012.11:g.6385727C>T , CM000674.1:g.6385727C>T GRCh37
NC_000012.10:g.6255988C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001748976.1:n.157+16538G>A
XR_001748977.1:n.157+16538G>A
XR_001748978.1:n.157+16538G>A
XR_001748979.1:n.157+16538G>A
XR_001748980.1:n.157+16538G>A
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