Linked Data
ClinVar Variation Id:
405522
dbSNP Id:
rs758800351
ExAC:
10:43619249 G / A
gnomAD v2:
10-43619249-G-A
gnomAD v3:
10-43123801-G-A
gnomAD v4:
10-43123801-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43123801G>A , CM000672.2:g.43123801G>A | GRCh38 |
| NC_000010.10:g.43619249G>A , CM000672.1:g.43619249G>A | GRCh37 |
| NC_000010.9:g.42939255G>A | NCBI36 |
| NG_007489.1:g.51733G>A , LRG_518:g.51733G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2536G>A | ENSP00000480088.2:p.Glu846Lys | |
| ENST00000683007.1:n.2506G>A | ||
| ENST00000340058.6:c.2932G>A | ENSP00000344798.4:p.Glu978Lys | |
| ENST00000355710.8:c.2932G>A MANE Select | ENSP00000347942.3:p.Glu978Lys | |
| ENST00000671844.1:c.*1526G>A | ENSP00000500541.1:n.*1526G>A | |
| ENST00000672389.1:c.*1526G>A | ENSP00000500252.1:n.*1526G>A | |
| ENST00000340058.5:c.2932G>A | ENSP00000344798.4:p.Glu978Lys | |
| ENST00000355710.7:c.2932G>A | ENSP00000347942.3:p.Glu978Lys | |
| ENST00000615310.4:c.*281G>A | ENSP00000480088.1:n.*281G>A | |
| NM_020630.4:c.2932G>A , LRG_518t2:c.2932G>A | NP_065681.1:p.Glu978Lys | |
| NM_020975.4:c.2932G>A , LRG_518t1:c.2932G>A | NP_066124.1:p.Glu978Lys | |
| XM_011540027.1:c.2932G>A | XP_011538329.1:p.Glu978Lys | |
| NM_001355216.1:c.2170G>A | NP_001342145.1:p.Glu724Lys | |
| NM_020630.5:c.2932G>A | NP_065681.1:p.Glu978Lys | |
| NM_020975.5:c.2932G>A | NP_066124.1:p.Glu978Lys | |
| NM_020975.6:c.2932G>A MANE Select | NP_066124.1:p.Glu978Lys | |
| NM_020630.6:c.2932G>A | NP_065681.1:p.Glu978Lys |