Linked Data
ClinVar Variation Id:
161551
ClinVar RCV Id:
RCV000149086
dbSNP Id:
rs193920839
COSMIC:
COSM1179704
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150510035G>T , CM000685.2:g.150510035G>T | GRCh38 |
| NC_000023.10:g.149678305G>T , CM000685.1:g.149678305G>T | GRCh37 |
| NC_000023.9:g.149428963G>T | NCBI36 |
| NG_017093.2:g.151738G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262858.8:c.*33G>T | ENSP00000262858.6:n.*33G>T | |
| ENST00000370401.7:c.*33G>T MANE Select | ENSP00000359428.2:n.*33G>T | |
| ENST00000426613.5:c.*33G>T | ENSP00000397438.2:n.*33G>T | |
| ENST00000682016.1:c.1991G>T | ENSP00000507991.1:p.Ser664Ile | |
| ENST00000682253.1:c.*33G>T | ENSP00000506890.1:n.*33G>T | |
| ENST00000683453.1:c.*33G>T | ENSP00000507454.1:n.*33G>T | |
| ENST00000683696.1:c.*33G>T | ENSP00000507408.1:n.*33G>T | |
| ENST00000432680.7:c.1916G>T | ENSP00000414517.2:p.Ser639Ile | |
| ENST00000262858.7:c.*33G>T | ENSP00000262858.5:n.*33G>T | |
| ENST00000370401.6:c.*33G>T | ENSP00000359428.2:n.*33G>T | |
| ENST00000426613.4:c.*33G>T | ENSP00000397438.2:n.*33G>T | |
| ENST00000432680.6:c.1916G>T | ENSP00000414517.2:p.Ser639Ile | |
| ENST00000464149.1:n.711G>T | ||
| NM_001177465.2:c.1916G>T | NP_001170936.1:p.Ser639Ile | |
| NM_001177466.2:c.*33G>T | NP_001170937.1:n.*33G>T | |
| NM_005491.4:c.*33G>T | NP_005482.2:n.*33G>T | |
| XM_006724802.2:c.*33G>T | XP_006724865.1:n.*33G>T | |
| XM_006724803.2:c.*33G>T | XP_006724866.1:n.*33G>T | |
| XM_011531092.1:c.1991G>T | XP_011529394.1:p.Ser664Ile | |
| XM_011531093.1:c.1991G>T | XP_011529395.1:p.Ser664Ile | |
| XM_011531094.1:c.1916G>T | XP_011529396.1:p.Ser639Ile | |
| XM_011531095.1:c.*33G>T | XP_011529397.1:n.*33G>T | |
| XM_011531096.1:c.*33G>T | XP_011529398.1:n.*33G>T | |
| XM_006724802.4:c.*33G>T | XP_006724865.1:n.*33G>T | |
| XM_006724803.4:c.*33G>T | XP_006724866.1:n.*33G>T | |
| XM_011531092.3:c.1991G>T | XP_011529394.1:p.Ser664Ile | |
| XM_011531093.3:c.1991G>T | XP_011529395.1:p.Ser664Ile | |
| XM_011531095.3:c.*33G>T | XP_011529397.1:n.*33G>T | |
| XM_017029188.1:c.*33G>T | XP_016884677.1:n.*33G>T | |
| XM_017029189.2:c.*33G>T | XP_016884678.1:n.*33G>T | |
| XM_024452317.1:c.1991G>T | XP_024308085.1:p.Ser664Ile | |
| XM_024452318.1:c.1991G>T | XP_024308086.1:p.Ser664Ile | |
| XM_024452319.1:c.*33G>T | XP_024308087.1:n.*33G>T | |
| XM_024452320.1:c.*33G>T | XP_024308088.1:n.*33G>T | |
| NM_001177465.3:c.1916G>T | NP_001170936.1:p.Ser639Ile | |
| NM_005491.5:c.*33G>T MANE Select | NP_005482.2:n.*33G>T | |
| NM_001177466.3:c.*33G>T | NP_001170937.1:n.*33G>T | |
| NM_001400512.1:c.1991G>T | NP_001387441.1:p.Ser664Ile | |
| NM_001400513.1:c.*33G>T | NP_001387442.1:n.*33G>T | |
| NM_001400514.1:c.*33G>T | NP_001387443.1:n.*33G>T | |
| NM_001400515.1:c.*33G>T | NP_001387444.1:n.*33G>T |