Linked Data
ClinVar Variation Id:
133588
dbSNP Id:
rs148144203
ExAC:
20:31024450 C / T
gnomAD v2:
20-31024450-C-T
gnomAD v3:
20-32436647-C-T
gnomAD v4:
20-32436647-C-T
COSMIC:
COSM97046
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436647C>T , CM000682.2:g.32436647C>T | GRCh38 |
| NC_000020.10:g.31024450C>T , CM000682.1:g.31024450C>T | GRCh37 |
| NC_000020.9:g.30488111C>T | NCBI36 |
| NG_027868.1:g.83304C>T , LRG_630:g.83304C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3935C>T MANE Select | ENSP00000364839.4:p.Ala1312Val | |
| ENST00000646985.1:c.3752C>T | ENSP00000495053.1:p.Ala1251Val | |
| ENST00000647223.1:n.6288C>T | ||
| ENST00000651418.1:c.1870-1783C>T | ENSP00000499150.1:n.1870-1783C>T | |
| ENST00000306058.9:c.3920C>T | ENSP00000305119.5:p.Ala1307Val | |
| ENST00000375687.8:c.3935C>T | ENSP00000364839.4:p.Ala1312Val | |
| ENST00000613218.4:c.3935C>T | ENSP00000480487.1:p.Ala1312Val | |
| ENST00000620121.4:c.3935C>T | ENSP00000481978.1:p.Ala1312Val | |
| NM_015338.5:c.3935C>T , LRG_630t1:c.3935C>T | NP_056153.2:p.Ala1312Val | |
| XM_006723727.2:c.3932C>T | XP_006723790.1:p.Ala1311Val | |
| XM_006723728.2:c.3905C>T | XP_006723791.1:p.Ala1302Val | |
| XM_006723730.2:c.3851C>T | XP_006723793.1:p.Ala1284Val | |
| XM_006723732.2:c.3752C>T | XP_006723795.1:p.Ala1251Val | |
| XM_006723733.1:c.3251C>T | XP_006723796.1:p.Ala1084Val | |
| XM_011528647.1:c.4199C>T | XP_011526949.1:p.Ala1400Val | |
| XM_011528648.1:c.4196C>T | XP_011526950.1:p.Ala1399Val | |
| XM_011528649.1:c.4115C>T | XP_011526951.1:p.Ala1372Val | |
| XM_011528650.1:c.4046C>T | XP_011526952.1:p.Ala1349Val | |
| XM_011528651.1:c.3914C>T | XP_011526953.1:p.Ala1305Val | |
| XM_011528652.1:c.3851C>T | XP_011526954.1:p.Ala1284Val | |
| NM_001363734.1:c.3752C>T | NP_001350663.1:p.Ala1251Val | |
| XM_006723727.3:c.3932C>T | XP_006723790.1:p.Ala1311Val | |
| XM_006723728.3:c.3905C>T | XP_006723791.1:p.Ala1302Val | |
| XM_006723730.4:c.3851C>T | XP_006723793.1:p.Ala1284Val | |
| XM_011528648.3:c.4196C>T | XP_011526950.1:p.Ala1399Val | |
| XM_011528652.2:c.3851C>T | XP_011526954.1:p.Ala1284Val | |
| XM_017027704.1:c.3851C>T | XP_016883193.1:p.Ala1284Val | |
| XM_017027705.1:c.3851C>T | XP_016883194.1:p.Ala1284Val | |
| XM_017027706.1:c.3782C>T | XP_016883195.1:p.Ala1261Val | |
| NM_015338.6:c.3935C>T MANE Select | NP_056153.2:p.Ala1312Val |