Linked Data
ClinVar Variation Id:
1355843
ClinVar RCV Id:
RCV001876593
dbSNP Id:
rs2103126265
COSMIC:
COSM1689460
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193141965C>T , CM000663.2:g.193141965C>T | GRCh38 |
| NC_000001.10:g.193111095C>T , CM000663.1:g.193111095C>T | GRCh37 |
| NC_000001.9:g.191377718C>T | NCBI36 |
| NG_012691.1:g.25008C>T , LRG_507:g.25008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.628C>T MANE Select | ENSP00000356405.4:p.Gln210Ter | |
| ENST00000635846.1:c.628C>T | ENSP00000490035.1:p.Gln210Ter | |
| ENST00000643006.1:c.628C>T | ENSP00000496633.1:p.Gln210Ter | |
| ENST00000643784.1:c.*104C>T | ENSP00000494944.1:n.*104C>T | |
| ENST00000647662.1:n.529C>T | ||
| ENST00000648071.1:c.*604C>T | ENSP00000497513.1:n.*604C>T | |
| ENST00000649606.1:n.641C>T | ||
| ENST00000649895.1:n.846C>T | ||
| ENST00000650197.1:c.628C>T | ENSP00000496929.1:p.Gln210Ter | |
| ENST00000367435.3:c.628C>T | ENSP00000356405.3:p.Gln210Ter | |
| NM_024529.4:c.628C>T , LRG_507t1:c.628C>T | NP_078805.3:p.Gln210Ter | |
| XM_006711537.2:c.628C>T | XP_006711600.1:p.Gln210Ter | |
| XM_006711537.4:c.628C>T | XP_006711600.1:p.Gln210Ter | |
| NM_024529.5:c.628C>T MANE Select | NP_078805.3:p.Gln210Ter |