Canonical Allele Identifier: CA13953706
Gene: OSGEP HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.20454990T>G
GRCh37 chr14:g.20923149T>G
gnomAD v2:
14:20923149 T / G
gnomAD v3:
14:20454990 T / G
gnomAD v4:
chr14-20454990-T-G
Joint Max Group AF 0.69651482 (AFR)
Genomes Max Group AF 0.69552649 (AFR)
Exomes Max Group AF 0.6900069 (AFR)
ClinVar RCV:
RCV001694016
ClinVar Variation:
1282032
dbSNP:
1760944
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454990T>G , CM000676.2:g.20454990T>G GRCh38
NC_000014.8:g.20923149T>G , CM000676.1:g.20923149T>G GRCh37
NC_000014.7:g.19992989T>G NCBI36
NG_008718.1:g.4860T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.8:c.-307A>C ENSP00000206542.4:n.-307A>C
ENST00000556252.1:n.64A>C
ENST00000556439.1:n.100A>C
NM_017807.3:c.-307A>C NP_060277.1:n.-307A>C
XM_011536930.1:c.-368A>C XP_011535232.1:n.-368A>C
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