Linked Data
ClinVar Variation Id:
1161666
dbSNP Id:
rs1227304934
gnomAD v3:
10-43120116-G-A
gnomAD v4:
10-43120116-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43120116G>A , CM000672.2:g.43120116G>A | GRCh38 |
| NC_000010.10:g.43615564G>A , CM000672.1:g.43615564G>A | GRCh37 |
| NC_000010.9:g.42935570G>A | NCBI36 |
| NG_007489.1:g.48048G>A , LRG_518:g.48048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2247G>A | ENSP00000480088.2:p.Leu749= | |
| ENST00000683007.1:n.2217G>A | ||
| ENST00000683872.1:n.2208G>A | ||
| ENST00000340058.6:c.2643G>A | ENSP00000344798.4:p.Leu881= | |
| ENST00000355710.8:c.2643G>A MANE Select | ENSP00000347942.3:p.Leu881= | |
| ENST00000671844.1:c.*1237G>A | ENSP00000500541.1:n.*1237G>A | |
| ENST00000672389.1:c.*1237G>A | ENSP00000500252.1:n.*1237G>A | |
| ENST00000340058.5:c.2643G>A | ENSP00000344798.4:p.Leu881= | |
| ENST00000355710.7:c.2643G>A | ENSP00000347942.3:p.Leu881= | |
| ENST00000615310.4:c.1369G>A | ENSP00000480088.1:p.Gly457Ser | |
| NM_020630.4:c.2643G>A , LRG_518t2:c.2643G>A | NP_065681.1:p.Leu881= | |
| NM_020975.4:c.2643G>A , LRG_518t1:c.2643G>A | NP_066124.1:p.Leu881= | |
| XM_011540027.1:c.2643G>A | XP_011538329.1:p.Leu881= | |
| NM_001355216.1:c.1881G>A | NP_001342145.1:p.Leu627= | |
| NM_020630.5:c.2643G>A | NP_065681.1:p.Leu881= | |
| NM_020975.5:c.2643G>A | NP_066124.1:p.Leu881= | |
| NM_020975.6:c.2643G>A MANE Select | NP_066124.1:p.Leu881= | |
| NM_020630.6:c.2643G>A | NP_065681.1:p.Leu881= |