Linked Data
ClinVar Variation Id:
282907
dbSNP Id:
rs201659696
ExAC:
11:6415573 C / T
gnomAD v2:
11-6415573-C-T
gnomAD v3:
11-6394343-C-T
gnomAD v4:
11-6394343-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394343C>T , CM000673.2:g.6394343C>T | GRCh38 |
| NC_000011.9:g.6415573C>T , CM000673.1:g.6415573C>T | GRCh37 |
| NC_000011.8:g.6372149C>T | NCBI36 |
| NG_011780.1:g.8919C>T | |
| NG_029615.1:g.30072G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1632C>T MANE Select | ENSP00000340409.4:p.Thr544= | |
| ENST00000342245.8:c.1632C>T | ENSP00000340409.4:p.Thr544= | |
| ENST00000526280.1:c.689C>T | ||
| ENST00000527275.5:c.1629C>T | ENSP00000435350.1:p.Thr543= | |
| ENST00000531303.5:c.*483C>T | ENSP00000432625.1:n.*483C>T | |
| ENST00000531336.1:n.620C>T | ||
| ENST00000533123.5:c.*359C>T | ENSP00000435950.1:n.*359C>T | |
| ENST00000534405.5:c.*463C>T | ENSP00000434353.1:n.*463C>T | |
| NM_000543.4:c.1632C>T | NP_000534.3:p.Thr544= | |
| NM_001007593.2:c.1629C>T | NP_001007594.2:p.Thr543= | |
| XM_005253075.3:c.*125C>T | XP_005253132.1:n.*125C>T | |
| XM_011520303.1:c.1500C>T | XP_011518605.1:p.Thr500= | |
| XM_011520304.1:c.*125C>T | XP_011518606.1:n.*125C>T | |
| NM_001318087.1:c.*125C>T | NP_001305016.1:n.*125C>T | |
| NM_001318088.1:c.711C>T | NP_001305017.1:p.Thr237= | |
| NM_001365135.1:c.1500C>T | NP_001352064.1:p.Thr500= | |
| NR_027400.2:n.1645C>T | ||
| NR_134502.1:n.1184C>T | ||
| XM_011520304.2:c.*125C>T | XP_011518606.1:n.*125C>T | |
| XR_001747940.2:n.1817C>T | ||
| XR_002957158.1:n.1999C>T | ||
| NM_000543.5:c.1632C>T MANE Select | NP_000534.3:p.Thr544= | |
| NM_001007593.3:c.1629C>T | NP_001007594.2:p.Thr543= | |
| NM_001318087.2:c.*125C>T | NP_001305016.1:n.*125C>T | |
| NM_001318088.2:c.711C>T | NP_001305017.1:p.Thr237= | |
| NM_001365135.2:c.1500C>T | NP_001352064.1:p.Thr500= | |
| NR_027400.3:n.1585C>T | ||
| NR_134502.2:n.1124C>T |