Linked Data
ClinVar Variation Id:
6333
dbSNP Id:
rs121908645
ExAC:
9:133355833 C / T
gnomAD v2:
9-133355833-C-T
gnomAD v3:
9-130480446-C-T
gnomAD v4:
9-130480446-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480446C>T , CM000671.2:g.130480446C>T | GRCh38 |
| NC_000009.11:g.133355833C>T , CM000671.1:g.133355833C>T | GRCh37 |
| NC_000009.10:g.132345654C>T | NCBI36 |
| NG_011542.1:g.40740C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.835C>T MANE Select | ENSP00000253004.6:p.Arg279Ter | |
| ENST00000352480.9:c.835C>T | ENSP00000253004.6:p.Arg279Ter | |
| ENST00000372386.6:n.106C>T | ||
| ENST00000372393.7:c.835C>T | ENSP00000361469.2:p.Arg279Ter | |
| ENST00000372394.5:c.835C>T | ENSP00000361471.1:p.Arg279Ter | |
| ENST00000470849.4:n.560C>T | ||
| ENST00000492400.5:n.344C>T | ||
| ENST00000493984.6:n.612C>T | ||
| NM_000050.4:c.835C>T | NP_000041.2:p.Arg279Ter | |
| NM_054012.3:c.835C>T | NP_446464.1:p.Arg279Ter | |
| XM_005272200.2:c.835C>T | XP_005272257.1:p.Arg279Ter | |
| XM_011518705.1:c.949C>T | XP_011517007.1:p.Arg317Ter | |
| XM_005272200.3:c.835C>T | XP_005272257.1:p.Arg279Ter | |
| XM_011518705.2:c.949C>T | XP_011517007.1:p.Arg317Ter | |
| XM_017014729.1:c.931C>T | XP_016870218.1:p.Arg311Ter | |
| NM_054012.4:c.835C>T MANE Select | NP_446464.1:p.Arg279Ter |