Linked Data
ClinVar Variation Id:
1803813
ClinVar RCV Id:
RCV002468438
dbSNP Id:
rs910286343
gnomAD v3:
11-8097262-A-G
gnomAD v4:
11-8097262-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8097262A>G , CM000673.2:g.8097262A>G | GRCh38 |
| NC_000011.9:g.8118809A>G , CM000673.1:g.8118809A>G | GRCh37 |
| NC_000011.8:g.8075385A>G | NCBI36 |
| NG_029912.1:g.63630A>G | |
| NG_030416.2:g.76782T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.722A>G (TUB) MANE Select | ENSP00000299506.3:p.Glu241Gly | |
| ENST00000299506.2:c.722A>G (TUB) | ENSP00000299506.2:p.Glu241Gly | |
| ENST00000305253.8:c.887A>G (TUB) | ENSP00000305426.4:p.Glu296Gly | |
| ENST00000534099.5:c.740A>G (TUB) | ENSP00000434400.1:p.Glu247Gly | |
| NM_003320.4:c.887A>G (TUB) | NP_003311.2:p.Glu296Gly | |
| NM_177972.2:c.722A>G (TUB) | NP_813977.1:p.Glu241Gly | |
| XM_005253109.2:c.848A>G (TUB) | XP_005253166.1:p.Glu283Gly | |
| XM_011520344.1:c.758A>G (TUB) | XP_011518646.1:p.Glu253Gly | |
| XR_428851.2:n.1484-3103T>C (RIC3) | ||
| XR_930896.1:n.1547-3103T>C (RIC3) | ||
| NR_144485.1:n.1520-3103T>C (RIC3) | ||
| XM_005253109.3:c.848A>G (TUB) | XP_005253166.1:p.Glu283Gly | |
| XM_011520344.2:c.758A>G (TUB) | XP_011518646.1:p.Glu253Gly | |
| XR_001747957.2:n.1335-3103T>C (RIC3) | ||
| XR_428851.4:n.1422-3103T>C (RIC3) | ||
| XR_930896.3:n.1485-3103T>C (RIC3) | ||
| NM_177972.3:c.722A>G (TUB) MANE Select | NP_813977.1:p.Glu241Gly | |
| NR_144485.2:n.1451-3103T>C (RIC3) | ||
| NM_003320.5:c.887A>G (TUB) | NP_003311.2:p.Glu296Gly |