Linked Data
dbSNP Id:
rs1228035551
gnomAD v2:
11-8123414-A-T
gnomAD v3:
11-8101867-A-T
gnomAD v4:
11-8101867-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8101867A>T , CM000673.2:g.8101867A>T | GRCh38 |
| NC_000011.9:g.8123414A>T , CM000673.1:g.8123414A>T | GRCh37 |
| NC_000011.8:g.8079990A>T | NCBI36 |
| NG_029912.1:g.68235A>T | |
| NG_030416.2:g.72177T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299506.3:c.*248A>T (TUB) MANE Select | ENSP00000299506.3:n.*248A>T | |
| ENST00000299506.2:c.*248A>T (TUB) | ENSP00000299506.2:n.*248A>T | |
| ENST00000305253.8:c.*248A>T (TUB) | ENSP00000305426.4:n.*248A>T | |
| NM_003320.4:c.*248A>T (TUB) | NP_003311.2:n.*248A>T | |
| NM_177972.2:c.*248A>T (TUB) | NP_813977.1:n.*248A>T | |
| XM_005253109.2:c.*248A>T (TUB) | XP_005253166.1:n.*248A>T | |
| XM_011520344.1:c.*248A>T (TUB) | XP_011518646.1:n.*248A>T | |
| XR_428851.2:n.1484-7708T>A (RIC3) | ||
| XR_930896.1:n.1546+5468T>A (RIC3) | ||
| XR_930900.1:n.1547-4145T>A (RIC3) | ||
| NR_144485.1:n.1519+5468T>A (RIC3) | ||
| XM_005253109.3:c.*248A>T (TUB) | XP_005253166.1:n.*248A>T | |
| XM_011520344.2:c.*248A>T (TUB) | XP_011518646.1:n.*248A>T | |
| XR_001747957.2:n.1335-7708T>A (RIC3) | ||
| XR_428851.4:n.1422-7708T>A (RIC3) | ||
| XR_930896.3:n.1484+5468T>A (RIC3) | ||
| XR_930900.3:n.1485-4145T>A (RIC3) | ||
| NM_177972.3:c.*248A>T (TUB) MANE Select | NP_813977.1:n.*248A>T | |
| NR_144485.2:n.1450+5468T>A (RIC3) | ||
| NM_003320.5:c.*248A>T (TUB) | NP_003311.2:n.*248A>T |