Canonical Allele Identifier: CA13721344
Gene: SLCO1B1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.21224625G>C
GRCh37 chr12:g.21377559G>C
gnomAD v2:
12:21377559 G / C
gnomAD v3:
12:21224625 G / C
gnomAD v4:
chr12-21224625-G-C
Joint Max Group AF 0.41811936 (EAS)
Genomes Max Group AF 0.43601924 (EAS)
Exomes Max Group AF 0.4136649 (EAS)
ClinVar RCV:
RCV001721944
ClinVar Variation:
1295279
dbSNP:
4149080
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21224625G>C , CM000674.2:g.21224625G>C GRCh38
NC_000012.11:g.21377559G>C , CM000674.1:g.21377559G>C GRCh37
NC_000012.10:g.21268826G>C NCBI36
NG_011745.1:g.98432G>C , LRG_1022:g.98432G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256958.3:c.1748-97G>C MANE Select ENSP00000256958.2:n.1748-97G>C
ENST00000256958.2:c.1748-97G>C ENSP00000256958.2:n.1748-97G>C
NM_006446.4:c.1748-97G>C , LRG_1022t1:c.1748-97G>C NP_006437.3:n.1748-97G>C
NM_006446.5:c.1748-97G>C MANE Select NP_006437.3:n.1748-97G>C
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