Canonical Allele Identifier: CA314388401
Gene: LBP HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.38349567A>G
gnomAD v3:
20:38349567 A / G
gnomAD v4:
chr20-38349567-A-G
Joint Max Group AF 0.95905384 (NFE)
Genomes Max Group AF 0.9491239 (NFE)
Exomes Max Group AF 0.95933125 (NFE)
ClinVar RCV:
RCV000948048
ClinVar Variation:
769090
dbSNP:
1739654
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.38349567A>G , CM000682.2:g.38349567A>G GRCh38
NG_034239.1:g.8157A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000217407.3:c.144A>G MANE Select ENSP00000217407.2:p.Leu48=
ENST00000217407.2:c.144A>G ENSP00000217407.2:p.Leu48=
NM_004139.4:c.144A>G NP_004130.2:p.Leu48=
NM_004139.5:c.144A>G MANE Select NP_004130.2:p.Leu48=
Search 100 bp 5'
Search 100 bp 3'