Linked Data
ClinVar Variation Id:
385763
dbSNP Id:
rs121912577
gnomAD v2:
18-48593485-C-T
gnomAD v3:
18-51067115-C-T
gnomAD v4:
18-51067115-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51067115C>T , CM000680.2:g.51067115C>T | GRCh38 |
| NC_000018.9:g.48593485C>T , CM000680.1:g.48593485C>T | GRCh37 |
| NC_000018.8:g.46847483C>T | NCBI36 |
| NG_013013.2:g.104076C>T , LRG_318:g.104076C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588860.6:c.1236C>T | ENSP00000465878.2:p.Tyr412= | |
| ENST00000589076.6:c.1236C>T | ENSP00000466934.2:p.Tyr412= | |
| ENST00000589941.2:c.1236C>T | ENSP00000465874.2:p.Tyr412= | |
| ENST00000590061.2:c.1236C>T | ENSP00000464772.2:p.Tyr412= | |
| ENST00000593223.2:c.1236C>T | ENSP00000466118.2:p.Tyr412= | |
| ENST00000611848.2:c.1236C>T | ENSP00000478613.2:p.Tyr412= | |
| ENST00000684953.1:n.2608C>T | ||
| ENST00000685090.1:n.1687C>T | ||
| ENST00000685232.1:n.1344C>T | ||
| ENST00000688574.1:n.1344C>T | ||
| ENST00000691124.1:n.2718C>T | ||
| ENST00000342988.8:c.1236C>T MANE Select | ENSP00000341551.3:p.Tyr412= | |
| ENST00000342988.7:c.1236C>T | ENSP00000341551.3:p.Tyr412= | |
| ENST00000398417.6:c.1236C>T | ENSP00000381452.1:p.Tyr412= | |
| ENST00000588745.5:c.948C>T | ENSP00000464901.1:p.Tyr316= | |
| ENST00000590499.1:n.294C>T | ||
| ENST00000591126.5:n.3237C>T | ||
| ENST00000592186.5:c.955+7199C>T | ENSP00000468611.1:n.955+7199C>T | |
| ENST00000593223.1:c.3C>T | ENSP00000466118.1:p.Tyr1= | |
| ENST00000611848.1:c.436C>T | ||
| NM_005359.5:c.1236C>T , LRG_318t1:c.1236C>T | NP_005350.1:p.Tyr412= | |
| NM_005359.6:c.1236C>T MANE Select | NP_005350.1:p.Tyr412= |