Canonical Allele Identifier: CA15753346
Gene: SLCO1B1 HGNC NCBI
dbSNP:
4363657
gnomAD v2:
12:21368722 T / C
gnomAD v3:
12:21215788 T / C
gnomAD v4:
chr12-21215788-T-C
Joint Max Group AF 0.43462507 (EAS)
Genomes Max Group AF 0.43462507 (EAS)
MyVariant.info:
GRCh38 chr12:g.21215788T>C
GRCh37 chr12:g.21368722T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21215788T>C , CM000674.2:g.21215788T>C GRCh38
NC_000012.11:g.21368722T>C , CM000674.1:g.21368722T>C GRCh37
NC_000012.10:g.21259989T>C NCBI36
NG_011745.1:g.89595T>C , LRG_1022:g.89595T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256958.3:c.1498-1331T>C MANE Select ENSP00000256958.2:n.1498-1331T>C
ENST00000256958.2:c.1498-1331T>C ENSP00000256958.2:n.1498-1331T>C
NM_006446.4:c.1498-1331T>C , LRG_1022t1:c.1498-1331T>C NP_006437.3:n.1498-1331T>C
NM_006446.5:c.1498-1331T>C MANE Select NP_006437.3:n.1498-1331T>C
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