Canonical Allele Identifier: CA374586045
Gene: AMBP HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.114061451C>G
GRCh37 chr9:g.116823731C>G
Revel Score:
ENST00000265132 (MANE Select) 0.257
ENST00000540645 0.257
gnomAD v2:
9:116823731 C / G
gnomAD v3:
9:114061451 C / G
gnomAD v4:
chr9-114061451-C-G
Joint Max Group AF 0.00000738 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
ClinVar RCV:
RCV004142638
ClinVar Variation:
2293581
dbSNP:
1359367305
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114061451C>G , CM000671.2:g.114061451C>G GRCh38
NC_000009.11:g.116823731C>G , CM000671.1:g.116823731C>G GRCh37
NC_000009.10:g.115863552C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265132.8:c.826G>C MANE Select ENSP00000265132.3:p.Glu276Gln
ENST00000265132.7:c.826G>C ENSP00000265132.3:p.Glu276Gln
ENST00000466610.6:c.493+6G>C ENSP00000475149.1:n.493+6G>C
ENST00000540645.5:n.815G>C
NM_001633.3:c.826G>C NP_001624.1:p.Glu276Gln
XR_930257.1:n.532-1976C>G
NM_001633.4:c.826G>C MANE Select NP_001624.1:p.Glu276Gln
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