Linked Data
ClinVar Variation Id:
489388
ClinVar RCV Id:
RCV000578509
dbSNP Id:
rs554811993
ExAC:
12:21954093 G / A
gnomAD v2:
12-21954093-G-A
gnomAD v3:
12-21801159-G-A
gnomAD v4:
12-21801159-G-A
COSMIC:
COSM3398605
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21801159G>A , CM000674.2:g.21801159G>A | GRCh38 |
| NC_000012.11:g.21954093G>A , CM000674.1:g.21954093G>A | GRCh37 |
| NC_000012.10:g.21845360G>A | NCBI36 |
| NG_012819.1:g.140536C>T , LRG_377:g.140536C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261201.10:c.*61C>T | ENSP00000261201.4:n.*61C>T | |
| ENST00000682426.1:n.2112C>T | ||
| ENST00000682879.1:c.*3633C>T | ENSP00000508210.1:n.*3633C>T | |
| ENST00000683105.1:c.*559C>T | ENSP00000506801.1:n.*559C>T | |
| ENST00000683676.1:c.4212-2021C>T | ENSP00000508167.1:n.4212-2021C>T | |
| ENST00000683695.1:n.1000C>T | ||
| ENST00000684084.1:c.4484C>T | ENSP00000507859.1:p.Thr1495Met | |
| ENST00000261200.9:c.4535C>T MANE Select | ENSP00000261200.4:p.Thr1512Met | |
| ENST00000261201.9:c.4711C>T | ENSP00000261201.4:n.4711C>T | |
| ENST00000261200.8:c.4535C>T | ENSP00000261200.4:p.Thr1512Met | |
| NM_020297.3:c.4535C>T | NP_064693.2:p.Thr1512Met | |
| XM_005253284.2:c.4535C>T | XP_005253341.1:p.Thr1512Met | |
| XM_005253286.2:c.4535C>T | XP_005253343.1:p.Thr1512Met | |
| XM_005253287.3:c.*61C>T | XP_005253344.1:n.*61C>T | |
| XM_005253288.2:c.4535C>T | XP_005253345.1:p.Thr1512Met | |
| XM_005253289.2:c.4496C>T | XP_005253346.1:p.Thr1499Met | |
| XM_005253290.2:c.4394C>T | XP_005253347.1:p.Thr1465Met | |
| XM_006719025.2:c.*61C>T | XP_006719088.1:n.*61C>T | |
| XM_011520545.1:c.4535C>T | XP_011518847.1:p.Thr1512Met | |
| XR_931420.1:n.632-26051G>A | ||
| XR_931421.1:n.632-26051G>A | ||
| XR_931422.1:n.306-26051G>A | ||
| XM_005253284.4:c.4535C>T | XP_005253341.1:p.Thr1512Met | |
| XM_005253286.4:c.4535C>T | XP_005253343.1:p.Thr1512Met | |
| XM_005253287.5:c.*61C>T | XP_005253344.1:n.*61C>T | |
| XM_005253288.4:c.4535C>T | XP_005253345.1:p.Thr1512Met | |
| XM_005253289.4:c.4496C>T | XP_005253346.1:p.Thr1499Met | |
| XM_005253290.4:c.4394C>T | XP_005253347.1:p.Thr1465Met | |
| XM_006719025.4:c.*61C>T | XP_006719088.1:n.*61C>T | |
| XM_011520545.3:c.4535C>T | XP_011518847.1:p.Thr1512Met | |
| XR_931420.3:n.632-26051G>A | ||
| XR_931422.2:n.318-26051G>A | ||
| NM_001377273.1:c.4535C>T | NP_001364202.1:p.Thr1512Met | |
| NM_001377274.1:c.3668C>T | NP_001364203.1:p.Thr1223Met | |
| NM_005691.4:c.*61C>T | NP_005682.2:n.*61C>T | |
| NM_020297.4:c.4535C>T MANE Select | NP_064693.2:p.Thr1512Met |