Linked Data
ClinVar Variation Id:
287381
dbSNP Id:
rs777303823
ExAC:
X:123020356 G / A
gnomAD v2:
X-123020356-G-A
gnomAD v3:
X-123886506-G-A
gnomAD v4:
X-123886506-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.123886506G>A , CM000685.2:g.123886506G>A | GRCh38 |
| NC_000023.10:g.123020356G>A , CM000685.1:g.123020356G>A | GRCh37 |
| NC_000023.9:g.122848037G>A | NCBI36 |
| NG_007264.1:g.31309G>A , LRG_19:g.31309G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422098.6:c.844G>A | ENSP00000405529.2:p.Glu282Lys | |
| ENST00000371199.8:c.844G>A MANE Select | ENSP00000360242.3:p.Glu282Lys | |
| ENST00000355640.3:c.844G>A | ENSP00000347858.3:p.Glu282Lys | |
| ENST00000371199.7:c.844G>A | ENSP00000360242.3:p.Glu282Lys | |
| ENST00000434753.7:c.844G>A | ENSP00000395230.3:p.Glu282Lys | |
| ENST00000468503.1:n.93-2113G>A | ||
| ENST00000468691.5:n.157-2113G>A | ||
| ENST00000481776.5:n.143-2113G>A | ||
| ENST00000497640.1:n.100-2113G>A | ||
| ENST00000497906.5:n.207-2113G>A | ||
| NM_001167.3:c.844G>A , LRG_19t1:c.844G>A | NP_001158.2:p.Glu282Lys | |
| NM_001204401.1:c.844G>A | NP_001191330.1:p.Glu282Lys | |
| NR_037916.1:n.128-2113G>A | ||
| XM_006724754.2:c.844G>A | XP_006724817.1:p.Glu282Lys | |
| XM_011531329.1:c.844G>A | XP_011529631.1:p.Glu282Lys | |
| XM_011531329.2:c.844G>A | XP_011529631.1:p.Glu282Lys | |
| NM_001167.4:c.844G>A MANE Select | NP_001158.2:p.Glu282Lys | |
| NM_001204401.2:c.844G>A | NP_001191330.1:p.Glu282Lys | |
| NM_001378590.1:c.844G>A | NP_001365519.1:p.Glu282Lys | |
| NM_001378591.1:c.844G>A | NP_001365520.1:p.Glu282Lys | |
| NM_001378592.1:c.844G>A | NP_001365521.1:p.Glu282Lys | |
| NR_037916.2:n.242-2113G>A | ||
| NR_165803.1:n.224-2113G>A |