Linked Data
dbSNP Id:
rs1450920704
gnomAD v2:
8-134145755-C-T
gnomAD v3:
8-133133511-C-T
gnomAD v4:
8-133133511-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133511C>T , CM000670.2:g.133133511C>T | GRCh38 |
| NC_000008.10:g.134145755C>T , CM000670.1:g.134145755C>T | GRCh37 |
| NC_000008.9:g.134214937C>T | NCBI36 |
| NG_015832.1:g.271551C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8039C>T MANE Select | ENSP00000220616.4:p.Thr2680Ile | |
| ENST00000220616.8:c.8039C>T | ENSP00000220616.4:p.Thr2680Ile | |
| ENST00000519178.5:c.3405C>T | ||
| ENST00000519543.5:c.2438C>T | ENSP00000430430.1:p.Thr813Ile | |
| ENST00000521107.1:c.251C>T | ENSP00000430161.1:p.Thr84Ile | |
| ENST00000522691.1:n.125C>T | ||
| ENST00000523756.5:c.4694C>T | ||
| NM_003235.4:c.8039C>T | NP_003226.4:p.Thr2680Ile | |
| XM_005251038.3:c.7847C>T | XP_005251095.1:p.Thr2616Ile | |
| XM_006716622.2:c.7976C>T | XP_006716685.1:p.Thr2659Ile | |
| XM_005251038.4:c.7847C>T | XP_005251095.1:p.Thr2616Ile | |
| XM_006716622.3:c.7976C>T | XP_006716685.1:p.Thr2659Ile | |
| XM_017013793.1:c.7973C>T | XP_016869282.1:p.Thr2658Ile | |
| XM_017013794.1:c.7904C>T | XP_016869283.1:p.Thr2635Ile | |
| XM_017013795.1:c.7868C>T | XP_016869284.1:p.Thr2623Ile | |
| XM_017013796.1:c.7820C>T | XP_016869285.1:p.Thr2607Ile | |
| XM_017013797.1:c.7778C>T | XP_016869286.1:p.Thr2593Ile | |
| NM_003235.5:c.8039C>T MANE Select | NP_003226.4:p.Thr2680Ile |