Canonical Allele Identifier: CA314395722
Gene: LBP HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.38360615T>C
gnomAD v3:
20:38360615 T / C
gnomAD v4:
chr20-38360615-T-C
Joint Max Group AF 0.80453325 (AFR)
Genomes Max Group AF 0.80206014 (AFR)
Exomes Max Group AF 0.80254336 (AFR)
dbSNP:
1780623
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.38360615T>C , CM000682.2:g.38360615T>C GRCh38
NG_034239.1:g.19205T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217407.3:c.589-89T>C MANE Select ENSP00000217407.2:n.589-89T>C
ENST00000217407.2:c.589-89T>C ENSP00000217407.2:n.589-89T>C
NM_004139.4:c.589-89T>C NP_004130.2:n.589-89T>C
NM_004139.5:c.589-89T>C MANE Select NP_004130.2:n.589-89T>C
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