Linked Data
ClinVar Variation Id:
8162
ClinVar RCV Id:
RCV000008640
dbSNP Id:
rs121909304
PubMed:
PMID:15034580
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21801157C>T , CM000674.2:g.21801157C>T | GRCh38 |
| NC_000012.11:g.21954091C>T , CM000674.1:g.21954091C>T | GRCh37 |
| NC_000012.10:g.21845358C>T | NCBI36 |
| NG_012819.1:g.140538G>A , LRG_377:g.140538G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261201.10:c.*63G>A | ENSP00000261201.4:n.*63G>A | |
| ENST00000682426.1:n.2114G>A | ||
| ENST00000682879.1:c.*3635G>A | ENSP00000508210.1:n.*3635G>A | |
| ENST00000683105.1:c.*561G>A | ENSP00000506801.1:n.*561G>A | |
| ENST00000683676.1:c.4212-2019G>A | ENSP00000508167.1:n.4212-2019G>A | |
| ENST00000683695.1:n.1002G>A | ||
| ENST00000684084.1:c.4486G>A | ENSP00000507859.1:p.Ala1496Thr | |
| ENST00000261200.9:c.4537G>A MANE Select | ENSP00000261200.4:p.Ala1513Thr | |
| ENST00000261201.9:c.4713G>A | ENSP00000261201.4:n.4713G>A | |
| ENST00000261200.8:c.4537G>A | ENSP00000261200.4:p.Ala1513Thr | |
| NM_020297.3:c.4537G>A | NP_064693.2:p.Ala1513Thr | |
| XM_005253284.2:c.4537G>A | XP_005253341.1:p.Ala1513Thr | |
| XM_005253286.2:c.4537G>A | XP_005253343.1:p.Ala1513Thr | |
| XM_005253287.3:c.*63G>A | XP_005253344.1:n.*63G>A | |
| XM_005253288.2:c.4537G>A | XP_005253345.1:p.Ala1513Thr | |
| XM_005253289.2:c.4498G>A | XP_005253346.1:p.Ala1500Thr | |
| XM_005253290.2:c.4396G>A | XP_005253347.1:p.Ala1466Thr | |
| XM_006719025.2:c.*63G>A | XP_006719088.1:n.*63G>A | |
| XM_011520545.1:c.4537G>A | XP_011518847.1:p.Ala1513Thr | |
| XR_931420.1:n.632-26053C>T | ||
| XR_931421.1:n.632-26053C>T | ||
| XR_931422.1:n.306-26053C>T | ||
| XM_005253284.4:c.4537G>A | XP_005253341.1:p.Ala1513Thr | |
| XM_005253286.4:c.4537G>A | XP_005253343.1:p.Ala1513Thr | |
| XM_005253287.5:c.*63G>A | XP_005253344.1:n.*63G>A | |
| XM_005253288.4:c.4537G>A | XP_005253345.1:p.Ala1513Thr | |
| XM_005253289.4:c.4498G>A | XP_005253346.1:p.Ala1500Thr | |
| XM_005253290.4:c.4396G>A | XP_005253347.1:p.Ala1466Thr | |
| XM_006719025.4:c.*63G>A | XP_006719088.1:n.*63G>A | |
| XM_011520545.3:c.4537G>A | XP_011518847.1:p.Ala1513Thr | |
| XR_931420.3:n.632-26053C>T | ||
| XR_931422.2:n.318-26053C>T | ||
| NM_001377273.1:c.4537G>A | NP_001364202.1:p.Ala1513Thr | |
| NM_001377274.1:c.3670G>A | NP_001364203.1:p.Ala1224Thr | |
| NM_005691.4:c.*63G>A | NP_005682.2:n.*63G>A | |
| NM_020297.4:c.4537G>A MANE Select | NP_064693.2:p.Ala1513Thr |