Linked Data
ClinVar Variation Id:
135189
ClinVar RCV Id:
RCV000121996
RCV000409013
RCV000461515
RCV000570658
RCV000410596
RCV000758696
RCV001650985
dbSNP Id:
rs537874538
ExAC:
10:43606829 G / A
gnomAD v2:
10-43606829-G-A
gnomAD v3:
10-43111381-G-A
gnomAD v4:
10-43111381-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43111381G>A , CM000672.2:g.43111381G>A | GRCh38 |
| NC_000010.10:g.43606829G>A , CM000672.1:g.43606829G>A | GRCh37 |
| NC_000010.9:g.42926835G>A | NCBI36 |
| NG_007489.1:g.39313G>A , LRG_518:g.39313G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1042G>A | ENSP00000480088.2:p.Glu348Lys | |
| ENST00000683007.1:n.1012G>A | ||
| ENST00000683872.1:n.199G>A | ||
| ENST00000340058.6:c.1438G>A | ENSP00000344798.4:p.Glu480Lys | |
| ENST00000355710.8:c.1438G>A MANE Select | ENSP00000347942.3:p.Glu480Lys | |
| ENST00000671844.1:c.*32G>A | ENSP00000500541.1:n.*32G>A | |
| ENST00000672389.1:c.*32G>A | ENSP00000500252.1:n.*32G>A | |
| ENST00000340058.5:c.1438G>A | ENSP00000344798.4:p.Glu480Lys | |
| ENST00000355710.7:c.1438G>A | ENSP00000347942.3:p.Glu480Lys | |
| ENST00000498820.5:c.74-718G>A | ENSP00000419080.1:n.74-718G>A | |
| ENST00000615310.4:c.1289+149G>A | ENSP00000480088.1:n.1289+149G>A | |
| NM_020630.4:c.1438G>A , LRG_518t2:c.1438G>A | NP_065681.1:p.Glu480Lys | |
| NM_020975.4:c.1438G>A , LRG_518t1:c.1438G>A | NP_066124.1:p.Glu480Lys | |
| XM_011540027.1:c.1438G>A | XP_011538329.1:p.Glu480Lys | |
| NM_001355216.1:c.676G>A | NP_001342145.1:p.Glu226Lys | |
| NM_020630.5:c.1438G>A | NP_065681.1:p.Glu480Lys | |
| NM_020975.5:c.1438G>A | NP_066124.1:p.Glu480Lys | |
| NM_020975.6:c.1438G>A MANE Select | NP_066124.1:p.Glu480Lys | |
| NM_020630.6:c.1438G>A | NP_065681.1:p.Glu480Lys |