Canonical Allele Identifier: CA406304209
Gene: APOE HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.44908832T>C
GRCh37 chr19:g.45412089T>C
Revel Score:
ENST00000252486 (MANE Select) 0.360
ENST00000446996 0.360
ENST00000434152 0.360
ENST00000425718 0.360
gnomAD v2:
19:45412089 T / C
gnomAD v3:
19:44908832 T / C
gnomAD v4:
chr19-44908832-T-C
Joint Max Group AF 0.00000128 (NFE)
Exomes Max Group AF 0.00000136 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908832T>C , CM000681.2:g.44908832T>C GRCh38
NC_000019.9:g.45412089T>C , CM000681.1:g.45412089T>C GRCh37
NC_000019.8:g.50103929T>C NCBI36
NG_007084.2:g.8051T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.536T>C MANE Select ENSP00000252486.3:p.Val179Ala
ENST00000252486.8:c.536T>C ENSP00000252486.3:p.Val179Ala
ENST00000425718.1:c.536T>C ENSP00000410423.1:p.Val179Ala
ENST00000434152.5:c.614T>C ENSP00000413653.2:p.Val205Ala
ENST00000446996.5:c.536T>C ENSP00000413135.1:p.Val179Ala
NM_000041.3:c.536T>C NP_000032.1:p.Val179Ala
NM_001302688.1:c.614T>C NP_001289617.1:p.Val205Ala
NM_001302689.1:c.536T>C NP_001289618.1:p.Val179Ala
NM_001302690.1:c.536T>C NP_001289619.1:p.Val179Ala
NM_001302691.1:c.536T>C NP_001289620.1:p.Val179Ala
NM_000041.4:c.536T>C MANE Select NP_000032.1:p.Val179Ala
NM_001302688.2:c.614T>C NP_001289617.1:p.Val205Ala
NM_001302689.2:c.536T>C NP_001289618.1:p.Val179Ala
NM_001302691.2:c.536T>C NP_001289620.1:p.Val179Ala
NM_001302690.2:c.536T>C NP_001289619.1:p.Val179Ala
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