Canonical Allele Identifier: CA5199849
Gene: AMBP HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.114060930C>T
GRCh37 chr9:g.116823210C>T
Revel Score:
ENST00000265132 (MANE Select) 0.112
gnomAD v2:
9:116823210 C / T
gnomAD v4:
chr9-114060930-C-T
Joint Max Group AF 0.00000739 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
ClinVar RCV:
RCV004165084
ClinVar Variation:
2323720
dbSNP:
150141433
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114060930C>T , CM000671.2:g.114060930C>T GRCh38
NC_000009.11:g.116823210C>T , CM000671.1:g.116823210C>T GRCh37
NC_000009.10:g.115863031C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265132.8:c.1022G>A MANE Select ENSP00000265132.3:p.Gly341Asp
ENST00000265132.7:c.1022G>A ENSP00000265132.3:p.Gly341Asp
ENST00000540645.5:n.1336G>A
NM_001633.3:c.1022G>A NP_001624.1:p.Gly341Asp
XR_930257.1:n.531+1694C>T
NM_001633.4:c.1022G>A MANE Select NP_001624.1:p.Gly341Asp
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