Linked Data
ClinVar Variation Id:
50209
dbSNP Id:
rs397514689
ExAC:
17:61566074 C / T
gnomAD v2:
17-61566074-C-T
gnomAD v4:
17-63488713-C-T
PubMed:
PMID:22095942
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488713C>T , CM000679.2:g.63488713C>T | GRCh38 |
| NC_000017.10:g.61566074C>T , CM000679.1:g.61566074C>T | GRCh37 |
| NC_000017.9:g.58919806C>T | NCBI36 |
| NG_011648.1:g.16641C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2371C>T MANE Select | ENSP00000290866.4:p.Arg791Ter | |
| ENST00000290863.10:c.649C>T | ENSP00000290863.6:p.Arg217Ter | |
| ENST00000290866.9:c.2371C>T | ENSP00000290866.4:p.Arg791Ter | |
| ENST00000413513.7:c.649C>T | ENSP00000392247.3:p.Arg217Ter | |
| ENST00000428043.5:c.2371C>T | ENSP00000397593.2:p.Arg791Ter | |
| ENST00000577647.2:c.649C>T | ENSP00000464149.1:p.Arg217Ter | |
| ENST00000578839.5:c.*441C>T | ENSP00000462110.2:n.*441C>T | |
| ENST00000579204.1:c.630C>T | ENSP00000464629.1:n.630C>T | |
| ENST00000579314.5:c.*100C>T | ENSP00000462599.1:n.*100C>T | |
| ENST00000582005.5:c.*291C>T | ENSP00000462002.1:n.*291C>T | |
| ENST00000582761.1:c.139C>T | ENSP00000462909.1:p.Arg47Ter | |
| ENST00000584865.5:n.317C>T | ||
| NM_000789.3:c.2371C>T | NP_000780.1:p.Arg791Ter | |
| NM_001178057.1:c.649C>T | NP_001171528.1:p.Arg217Ter | |
| NM_152830.2:c.649C>T | NP_690043.1:p.Arg217Ter | |
| XM_005257110.1:c.1822C>T | XP_005257167.1:p.Arg608Ter | |
| XM_006721737.2:c.709C>T | XP_006721800.2:p.Arg237Ter | |
| XM_006721737.3:c.709C>T | XP_006721800.2:p.Arg237Ter | |
| NM_000789.4:c.2371C>T MANE Select | NP_000780.1:p.Arg791Ter | |
| NM_001178057.2:c.649C>T | NP_001171528.1:p.Arg217Ter | |
| NM_152830.3:c.649C>T | NP_690043.1:p.Arg217Ter | |
| NM_001382700.1:c.1804C>T | NP_001369629.1:p.Arg602Ter | |
| NM_001382701.1:c.1519C>T | NP_001369630.1:p.Arg507Ter | |
| NM_001382702.1:c.301C>T | NP_001369631.1:p.Arg101Ter | |
| NR_168483.1:n.749C>T |