Linked Data
ClinVar Variation Id:
1495645
ClinVar RCV Id:
RCV001991488
dbSNP Id:
rs781254112
ExAC:
15:51289583 A / G
gnomAD v2:
15-51289583-A-G
gnomAD v3:
15-50997386-A-G
gnomAD v4:
15-50997386-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50997386A>G , CM000677.2:g.50997386A>G | GRCh38 |
| NC_000015.9:g.51289583A>G , CM000677.1:g.51289583A>G | GRCh37 |
| NC_000015.8:g.49076875A>G | NCBI36 |
| NG_031875.1:g.93715A>G | |
| NG_031875.2:g.93715A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261842.10:c.2407A>G MANE Select | ENSP00000261842.5:p.Lys803Glu | |
| ENST00000261842.9:c.2407A>G | ENSP00000261842.5:p.Lys803Glu | |
| ENST00000558439.5:c.*1531A>G | ENSP00000452712.1:n.*1531A>G | |
| ENST00000560508.1:c.2182A>G | ENSP00000452976.1:p.Lys728Glu | |
| ENST00000561393.5:c.*1451A>G | ENSP00000452711.1:n.*1451A>G | |
| NM_001252127.1:c.2182A>G | NP_001239056.1:p.Lys728Glu | |
| NM_007347.4:c.2407A>G | NP_031373.2:p.Lys803Glu | |
| XM_005254264.2:c.2182A>G | XP_005254321.1:p.Lys728Glu | |
| XM_006720447.2:c.2182A>G | XP_006720510.1:p.Lys728Glu | |
| XM_011521408.1:c.2227A>G | XP_011519710.1:p.Lys743Glu | |
| XM_011521409.1:c.1057A>G | XP_011519711.1:p.Lys353Glu | |
| XM_005254264.4:c.2182A>G | XP_005254321.1:p.Lys728Glu | |
| XM_006720447.4:c.2182A>G | XP_006720510.1:p.Lys728Glu | |
| XM_017022042.2:c.1525A>G | XP_016877531.1:p.Lys509Glu | |
| XR_001751183.1:n.2514A>G | ||
| XR_001751184.1:n.2390A>G | ||
| NM_007347.5:c.2407A>G MANE Select | NP_031373.2:p.Lys803Glu | |
| NM_001252127.2:c.2182A>G | NP_001239056.1:p.Lys728Glu |