Linked Data
ClinVar Variation Id:
710466
ClinVar RCV Id:
RCV000882045
dbSNP Id:
rs35248609
ExAC:
17:48452584 G / T
gnomAD v2:
17-48452584-G-T
gnomAD v3:
17-50375223-G-T
gnomAD v4:
17-50375223-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50375223G>T , CM000679.2:g.50375223G>T | GRCh38 |
| NC_000017.10:g.48452584G>T , CM000679.1:g.48452584G>T | GRCh37 |
| NC_000017.9:g.45807583G>T | NCBI36 |
| NG_029665.1:g.7004G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338165.9:c.15G>T (EME1) MANE Select | ENSP00000339897.4:p.Lys5Asn | |
| ENST00000338165.8:c.15G>T (EME1) | ENSP00000339897.4:p.Lys5Asn | |
| ENST00000393271.6:c.15G>T (EME1) | ENSP00000376952.2:p.Lys5Asn | |
| ENST00000503118.2:c.274C>A (LRRC59) | ||
| ENST00000510007.5:n.63G>T (EME1) | ||
| ENST00000511519.6:c.15G>T (EME1) | ENSP00000423029.2:p.Lys5Asn | |
| ENST00000511648.6:c.15G>T (EME1) | ENSP00000421700.2:p.Lys5Asn | |
| ENST00000511711.5:c.15G>T (EME1) | ENSP00000427392.1:p.Lys5Asn | |
| NM_001166131.1:c.15G>T (EME1) | NP_001159603.1:p.Lys5Asn | |
| NM_152463.2:c.15G>T (EME1) | NP_689676.2:p.Lys5Asn | |
| XM_005257081.2:c.15G>T (EME1) | XP_005257138.1:p.Lys5Asn | |
| XM_011524392.1:c.15G>T (EME1) | XP_011522694.1:p.Lys5Asn | |
| XM_011524393.1:c.15G>T (EME1) | XP_011522695.1:p.Lys5Asn | |
| XM_011524394.1:c.15G>T (EME1) | XP_011522696.1:p.Lys5Asn | |
| XM_011524395.1:c.-479G>T (EME1) | XP_011522697.1:n.-479G>T | |
| XM_011524396.1:c.15G>T (EME1) | XP_011522698.1:p.Lys5Asn | |
| XR_934390.1:n.431G>T (EME1) | ||
| XR_934392.1:n.431G>T (EME1) | ||
| XR_934393.1:n.431G>T (EME1) | ||
| XM_005257081.3:c.15G>T (EME1) | XP_005257138.1:p.Lys5Asn | |
| XM_011524395.2:c.-479G>T (EME1) | XP_011522697.1:n.-479G>T | |
| XM_017024236.2:c.15G>T (EME1) | XP_016879725.1:p.Lys5Asn | |
| XR_002957972.1:n.92G>T (EME1) | ||
| XR_934390.3:n.88G>T (EME1) | ||
| NM_152463.3:c.15G>T (EME1) | NP_689676.2:p.Lys5Asn | |
| NM_001166131.2:c.15G>T (EME1) | NP_001159603.1:p.Lys5Asn | |
| NM_152463.4:c.15G>T (EME1) MANE Select | NP_689676.2:p.Lys5Asn |