Canonical Allele Identifier: CA5199853
Gene: AMBP HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.114060951C>G
GRCh37 chr9:g.116823231C>G
Revel Score:
ENST00000265132 (MANE Select) 0.056
gnomAD v2:
9:116823231 C / G
gnomAD v3:
9:114060951 C / G
gnomAD v4:
chr9-114060951-C-G
Joint Max Group AF 0.00051856 (EAS)
Genomes Max Group AF 0.00037938 (EAS)
Exomes Max Group AF 0.00047983 (EAS)
ClinVar RCV:
RCV004294734
ClinVar Variation:
2519771
dbSNP:
758356597
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114060951C>G , CM000671.2:g.114060951C>G GRCh38
NC_000009.11:g.116823231C>G , CM000671.1:g.116823231C>G GRCh37
NC_000009.10:g.115863052C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265132.8:c.1001G>C MANE Select ENSP00000265132.3:p.Arg334Thr
ENST00000265132.7:c.1001G>C ENSP00000265132.3:p.Arg334Thr
ENST00000540645.5:n.1315G>C
NM_001633.3:c.1001G>C NP_001624.1:p.Arg334Thr
XR_930257.1:n.531+1715C>G
NM_001633.4:c.1001G>C MANE Select NP_001624.1:p.Arg334Thr
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