Linked Data
ClinVar Variation Id:
1059
dbSNP Id:
rs121918206
gnomAD v4:
1-173838206-C-T
PubMed:
PMID:17384640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173838206C>T , CM000663.2:g.173838206C>T | GRCh38 |
| NC_000001.10:g.173807344C>T , CM000663.1:g.173807344C>T | GRCh37 |
| NC_000001.9:g.172073967C>T | NCBI36 |
| NG_016138.1:g.18548C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471476.2:c.*477C>T | ENSP00000497663.1:n.*477C>T | |
| ENST00000647645.1:c.787C>T | ENSP00000497450.1:p.Arg263Ter | |
| ENST00000647730.1:c.*477C>T | ENSP00000497781.1:n.*477C>T | |
| ENST00000647788.1:c.*477C>T | ENSP00000497769.1:n.*477C>T | |
| ENST00000648271.1:c.*477C>T | ENSP00000497795.1:n.*477C>T | |
| ENST00000648458.1:c.787C>T | ENSP00000497874.1:p.Arg263Ter | |
| ENST00000648807.1:c.787C>T | ENSP00000497472.1:p.Arg263Ter | |
| ENST00000648960.1:c.787C>T | ENSP00000497091.1:p.Arg263Ter | |
| ENST00000649067.1:c.787C>T | ENSP00000497052.1:p.Arg263Ter | |
| ENST00000649106.1:c.120-1161C>T | ||
| ENST00000649689.2:c.787C>T MANE Select | ENSP00000497569.1:p.Arg263Ter | |
| ENST00000650297.1:n.1170C>T | ||
| ENST00000361951.4:c.787C>T | ENSP00000355086.4:p.Arg263Ter | |
| NM_018122.4:c.787C>T | NP_060592.2:p.Arg263Ter | |
| XM_006711427.2:c.787C>T | XP_006711490.1:p.Arg263Ter | |
| XM_011509711.1:c.787C>T | XP_011508013.1:p.Arg263Ter | |
| NM_001365212.1:c.787C>T | NP_001352141.1:p.Arg263Ter | |
| NM_001365213.1:c.787C>T | NP_001352142.1:p.Arg263Ter | |
| NM_018122.5:c.787C>T MANE Select | NP_060592.2:p.Arg263Ter | |
| NM_001365213.2:c.787C>T | NP_001352142.1:p.Arg263Ter |