Linked Data
ClinVar Variation Id:
41217
ClinVar RCV Id:
RCV000034116
dbSNP Id:
rs267606587
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490987C>T , CM000673.2:g.67490987C>T | GRCh38 |
| NC_000011.9:g.67258458C>T , CM000673.1:g.67258458C>T | GRCh37 |
| NC_000011.8:g.67015034C>T | NCBI36 |
| NG_008969.1:g.12954C>T , LRG_460:g.12954C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.1294C>T | ||
| ENST00000528641.7:c.798C>T | ENSP00000434982.3:p.Ser266= | |
| ENST00000529797.2:n.1829C>T | ||
| ENST00000682324.1:c.469-10C>T | ENSP00000508017.1:n.469-10C>T | |
| ENST00000682659.1:c.618C>T | ENSP00000507351.1:p.Ser206= | |
| ENST00000683237.1:c.*127C>T | ENSP00000507343.1:n.*127C>T | |
| ENST00000683856.1:c.810C>T | ENSP00000507979.1:p.Ser270= | |
| ENST00000684006.1:c.*127C>T | ENSP00000507269.1:n.*127C>T | |
| ENST00000684657.1:c.807C>T | ENSP00000507961.1:p.Ser269= | |
| ENST00000279146.8:c.987C>T MANE Select | ENSP00000279146.3:p.Ser329= | |
| ENST00000279146.7:c.987C>T | ENSP00000279146.3:p.Ser329= | |
| NM_001302959.1:c.810C>T | NP_001289888.1:p.Ser270= | |
| NM_001302960.1:c.*127C>T | NP_001289889.1:n.*127C>T | |
| NM_003977.3:c.987C>T | NP_003968.3:p.Ser329= | |
| XM_024448761.1:c.987C>T | XP_024304529.1:p.Ser329= | |
| NM_003977.4:c.987C>T MANE Select | NP_003968.3:p.Ser329= | |
| NM_001302960.2:c.*127C>T | NP_001289889.1:n.*127C>T | |
| NM_001302959.2:c.810C>T | NP_001289888.1:p.Ser270= |