Linked Data
ClinVar Variation Id:
1983711
ClinVar RCV Id:
RCV002800082
dbSNP Id:
rs1407104363
gnomAD v2:
8-100880585-G-A
gnomAD v3:
8-99868357-G-A
gnomAD v4:
8-99868357-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99868357G>A , CM000670.2:g.99868357G>A | GRCh38 |
| NC_000008.10:g.100880585G>A , CM000670.1:g.100880585G>A | GRCh37 |
| NC_000008.9:g.100949761G>A | NCBI36 |
| NG_007098.2:g.860092G>A , LRG_351:g.860092G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*453G>A | ENSP00000507923.1:n.*453G>A | |
| ENST00000682358.1:n.11429G>A | ||
| ENST00000683334.1:c.*7041G>A | ENSP00000507369.1:n.*7041G>A | |
| ENST00000357162.7:c.11284G>A MANE Select | ENSP00000349685.2:p.Ala3762Thr | |
| ENST00000358544.7:c.11359G>A MANE Plus Clinical | ENSP00000351346.2:p.Ala3787Thr | |
| ENST00000357162.6:c.11284G>A | ENSP00000349685.2:p.Ala3762Thr | |
| ENST00000358544.6:c.11359G>A | ENSP00000351346.2:p.Ala3787Thr | |
| ENST00000493587.1:n.301G>A | ||
| NM_017890.4:c.11359G>A , LRG_351t1:c.11359G>A | NP_060360.3:p.Ala3787Thr | |
| NM_152564.4:c.11284G>A , LRG_351t2:c.11284G>A | NP_689777.3:p.Ala3762Thr | |
| XM_005250800.2:c.11359G>A | XP_005250857.1:p.Ala3787Thr | |
| XM_005250801.3:c.11359G>A | XP_005250858.1:p.Ala3787Thr | |
| XM_011516848.1:c.11356G>A | XP_011515150.1:p.Ala3786Thr | |
| XM_011516849.1:c.11281G>A | XP_011515151.1:p.Ala3761Thr | |
| XM_011516850.1:c.10981G>A | XP_011515152.1:p.Ala3661Thr | |
| XM_011516851.1:c.8245G>A | XP_011515153.1:p.Ala2749Thr | |
| XM_011516852.1:c.8245G>A | XP_011515154.1:p.Ala2749Thr | |
| XM_011516854.1:c.7138G>A | XP_011515156.1:p.Ala2380Thr | |
| XM_005250800.3:c.11359G>A | XP_005250857.1:p.Ala3787Thr | |
| XM_005250801.5:c.11359G>A | XP_005250858.1:p.Ala3787Thr | |
| XM_011516848.2:c.11356G>A | XP_011515150.1:p.Ala3786Thr | |
| XM_011516849.2:c.11281G>A | XP_011515151.1:p.Ala3761Thr | |
| XM_011516850.2:c.10981G>A | XP_011515152.1:p.Ala3661Thr | |
| XM_011516851.2:c.8245G>A | XP_011515153.1:p.Ala2749Thr | |
| XM_011516852.2:c.8245G>A | XP_011515154.1:p.Ala2749Thr | |
| XM_011516854.2:c.7138G>A | XP_011515156.1:p.Ala2380Thr | |
| XM_017013109.1:c.11164G>A | XP_016868598.1:p.Ala3722Thr | |
| XM_017013111.1:c.8245G>A | XP_016868600.1:p.Ala2749Thr | |
| XM_017013112.1:c.6916G>A | XP_016868601.1:p.Ala2306Thr | |
| XM_024447074.1:c.10144G>A | XP_024302842.1:p.Ala3382Thr | |
| NM_017890.5:c.11359G>A MANE Plus Clinical | NP_060360.3:p.Ala3787Thr | |
| NM_152564.5:c.11284G>A MANE Select | NP_689777.3:p.Ala3762Thr |