Canonical Allele Identifier: CA13596816
Gene: BTG1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.92145814T>C
GRCh37 chr12:g.92539590T>C
gnomAD v2:
12:92539590 T / C
gnomAD v3:
12:92145814 T / C
gnomAD v4:
chr12-92145814-T-C
Joint Max Group AF 0.54364438 (SAS)
Genomes Max Group AF 0.55301646 (SAS)
Exomes Max Group AF 0.47297317 (SAS)
dbSNP:
12694
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.92145814T>C , CM000674.2:g.92145814T>C GRCh38
NC_000012.11:g.92539590T>C , CM000674.1:g.92539590T>C GRCh37
NC_000012.10:g.91063721T>C NCBI36
NG_065368.1:g.5033A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256015.5:c.-279A>G MANE Select ENSP00000256015.3:n.-279A>G
ENST00000256015.4:c.-279A>G ENSP00000256015.3:n.-279A>G
NM_001731.2:c.-279A>G NP_001722.1:n.-279A>G
NM_001731.3:c.-279A>G MANE Select NP_001722.1:n.-279A>G
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