Canonical Allele Identifier: CA126702
Gene: EPOR HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.11378051T>C
GRCh37 chr19:g.11488727T>C
Revel Score:
ENST00000222139 (MANE Select) 0.036
gnomAD v2:
19:11488727 T / C
gnomAD v3:
19:11378051 T / C
gnomAD v4:
chr19-11378051-T-C
Joint Max Group AF 0.00708723 (AMR)
Genomes Max Group AF 0.00695241 (AMR)
Exomes Max Group AF 0.00690184 (NFE)
ClinVar Allele:
31637
ClinVar RCV:
RCV000018068
RCV000893045
RCV003321483
ClinVar Variation:
16598
dbSNP:
62638745
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11378051T>C , CM000681.2:g.11378051T>C GRCh38
NC_000019.9:g.11488727T>C , CM000681.1:g.11488727T>C GRCh37
NC_000019.8:g.11349727T>C NCBI36
NG_021395.1:g.11292A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222139.11:c.1460A>G MANE Select ENSP00000222139.5:p.Asn487Ser
ENST00000222139.10:c.1460A>G ENSP00000222139.5:p.Asn487Ser
ENST00000586890.5:c.*1203A>G ENSP00000467230.1:n.*1203A>G
ENST00000588681.5:n.1845A>G
ENST00000588859.5:c.*1203A>G ENSP00000466784.1:n.*1203A>G
ENST00000591958.5:c.*838A>G ENSP00000468187.1:n.*838A>G
ENST00000592375.6:c.*568A>G ENSP00000467809.2:n.*568A>G
NM_000121.3:c.1460A>G NP_000112.1:p.Asn487Ser
NR_033663.1:n.1845A>G
NM_000121.4:c.1460A>G MANE Select NP_000112.1:p.Asn487Ser
NR_033663.2:n.1817A>G
Search 100 bp 5'
Search 100 bp 3'