Linked Data
ClinVar Variation Id:
242436
ClinVar RCV Id:
RCV002518399
dbSNP Id:
rs556450190
ExAC:
15:51289577 G / A
gnomAD v2:
15-51289577-G-A
gnomAD v3:
15-50997380-G-A
gnomAD v4:
15-50997380-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50997380G>A , CM000677.2:g.50997380G>A | GRCh38 |
| NC_000015.9:g.51289577G>A , CM000677.1:g.51289577G>A | GRCh37 |
| NC_000015.8:g.49076869G>A | NCBI36 |
| NG_031875.1:g.93709G>A | |
| NG_031875.2:g.93709G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261842.10:c.2401G>A MANE Select | ENSP00000261842.5:p.Glu801Lys | |
| ENST00000261842.9:c.2401G>A | ENSP00000261842.5:p.Glu801Lys | |
| ENST00000558439.5:c.*1525G>A | ENSP00000452712.1:n.*1525G>A | |
| ENST00000560508.1:c.2176G>A | ENSP00000452976.1:p.Glu726Lys | |
| ENST00000561393.5:c.*1445G>A | ENSP00000452711.1:n.*1445G>A | |
| NM_001252127.1:c.2176G>A | NP_001239056.1:p.Glu726Lys | |
| NM_007347.4:c.2401G>A | NP_031373.2:p.Glu801Lys | |
| XM_005254264.2:c.2176G>A | XP_005254321.1:p.Glu726Lys | |
| XM_006720447.2:c.2176G>A | XP_006720510.1:p.Glu726Lys | |
| XM_011521408.1:c.2221G>A | XP_011519710.1:p.Glu741Lys | |
| XM_011521409.1:c.1051G>A | XP_011519711.1:p.Glu351Lys | |
| XM_005254264.4:c.2176G>A | XP_005254321.1:p.Glu726Lys | |
| XM_006720447.4:c.2176G>A | XP_006720510.1:p.Glu726Lys | |
| XM_017022042.2:c.1519G>A | XP_016877531.1:p.Glu507Lys | |
| XR_001751183.1:n.2508G>A | ||
| XR_001751184.1:n.2384G>A | ||
| NM_007347.5:c.2401G>A MANE Select | NP_031373.2:p.Glu801Lys | |
| NM_001252127.2:c.2176G>A | NP_001239056.1:p.Glu726Lys |