Canonical Allele Identifier: CA8798668
Gene: BIRC5 HGNC NCBI
COSMIC:
COSM3820768 (not active)
MyVariant.info:
GRCh38 chr17:g.78223702T>C
GRCh37 chr17:g.76219783T>C
gnomAD v2:
17:76219783 T / C
gnomAD v3:
17:78223702 T / C
gnomAD v4:
chr17-78223702-T-C
Joint Max Group AF 0.28225336 (NFE)
Genomes Max Group AF 0.27697244 (NFE)
Exomes Max Group AF 0.28240932 (NFE)
dbSNP:
2239680
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78223702T>C , CM000679.2:g.78223702T>C GRCh38
NC_000017.10:g.76219783T>C , CM000679.1:g.76219783T>C GRCh37
NC_000017.9:g.73731378T>C NCBI36
NG_029069.1:g.14507T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000350051.8:c.*148T>C MANE Select ENSP00000324180.4:n.*148T>C
ENST00000301633.8:c.*148T>C ENSP00000301633.3:n.*148T>C
ENST00000350051.7:c.*148T>C ENSP00000324180.4:n.*148T>C
ENST00000374948.6:c.*45T>C ENSP00000364086.1:n.*45T>C
ENST00000589892.1:n.593T>C
NM_001012270.1:c.*45T>C NP_001012270.1:n.*45T>C
NM_001012271.1:c.*148T>C NP_001012271.1:n.*148T>C
NM_001168.2:c.*148T>C NP_001159.2:n.*148T>C
XR_243654.3:n.779T>C
XR_934452.1:n.848T>C
XR_243654.5:n.779T>C
XR_934452.3:n.848T>C
NM_001168.3:c.*148T>C MANE Select NP_001159.2:n.*148T>C
NM_001012270.2:c.*45T>C NP_001012270.1:n.*45T>C
NM_001012271.2:c.*148T>C NP_001012271.1:n.*148T>C
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