Linked Data
ClinVar Variation Id:
3017977
ClinVar RCV Id:
RCV003874576
gnomAD v4:
8-133133521-C-T
MyVariant Identifiers:
chr8:g.134145765C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133521C>T , CM000670.2:g.133133521C>T | GRCh38 |
| NC_000008.10:g.134145765C>T , CM000670.1:g.134145765C>T | GRCh37 |
| NC_000008.9:g.134214947C>T | NCBI36 |
| NG_015832.1:g.271561C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8049C>T MANE Select | ENSP00000220616.4:p.Thr2683= | |
| ENST00000220616.8:c.8049C>T | ENSP00000220616.4:p.Thr2683= | |
| ENST00000519178.5:c.3415C>T | ||
| ENST00000519543.5:c.2448C>T | ENSP00000430430.1:p.Thr816= | |
| ENST00000521107.1:c.261C>T | ENSP00000430161.1:p.Thr87= | |
| ENST00000522691.1:n.135C>T | ||
| ENST00000523756.5:c.4704C>T | ||
| NM_003235.4:c.8049C>T | NP_003226.4:p.Thr2683= | |
| XM_005251038.3:c.7857C>T | XP_005251095.1:p.Thr2619= | |
| XM_006716622.2:c.7986C>T | XP_006716685.1:p.Thr2662= | |
| XM_005251038.4:c.7857C>T | XP_005251095.1:p.Thr2619= | |
| XM_006716622.3:c.7986C>T | XP_006716685.1:p.Thr2662= | |
| XM_017013793.1:c.7983C>T | XP_016869282.1:p.Thr2661= | |
| XM_017013794.1:c.7914C>T | XP_016869283.1:p.Thr2638= | |
| XM_017013795.1:c.7878C>T | XP_016869284.1:p.Thr2626= | |
| XM_017013796.1:c.7830C>T | XP_016869285.1:p.Thr2610= | |
| XM_017013797.1:c.7788C>T | XP_016869286.1:p.Thr2596= | |
| NM_003235.5:c.8049C>T MANE Select | NP_003226.4:p.Thr2683= |