Linked Data
dbSNP Id:
rs908409596
gnomAD v2:
11-8123407-C-T
gnomAD v3:
11-8101860-C-T
gnomAD v4:
11-8101860-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8101860C>T , CM000673.2:g.8101860C>T | GRCh38 |
| NC_000011.9:g.8123407C>T , CM000673.1:g.8123407C>T | GRCh37 |
| NC_000011.8:g.8079983C>T | NCBI36 |
| NG_029912.1:g.68228C>T | |
| NG_030416.2:g.72184G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299506.3:c.*241C>T (TUB) MANE Select | ENSP00000299506.3:n.*241C>T | |
| ENST00000299506.2:c.*241C>T (TUB) | ENSP00000299506.2:n.*241C>T | |
| ENST00000305253.8:c.*241C>T (TUB) | ENSP00000305426.4:n.*241C>T | |
| NM_003320.4:c.*241C>T (TUB) | NP_003311.2:n.*241C>T | |
| NM_177972.2:c.*241C>T (TUB) | NP_813977.1:n.*241C>T | |
| XM_005253109.2:c.*241C>T (TUB) | XP_005253166.1:n.*241C>T | |
| XM_011520344.1:c.*241C>T (TUB) | XP_011518646.1:n.*241C>T | |
| XR_428851.2:n.1484-7701G>A (RIC3) | ||
| XR_930896.1:n.1546+5475G>A (RIC3) | ||
| XR_930900.1:n.1547-4138G>A (RIC3) | ||
| NR_144485.1:n.1519+5475G>A (RIC3) | ||
| XM_005253109.3:c.*241C>T (TUB) | XP_005253166.1:n.*241C>T | |
| XM_011520344.2:c.*241C>T (TUB) | XP_011518646.1:n.*241C>T | |
| XR_001747957.2:n.1335-7701G>A (RIC3) | ||
| XR_428851.4:n.1422-7701G>A (RIC3) | ||
| XR_930896.3:n.1484+5475G>A (RIC3) | ||
| XR_930900.3:n.1485-4138G>A (RIC3) | ||
| NM_177972.3:c.*241C>T (TUB) MANE Select | NP_813977.1:n.*241C>T | |
| NR_144485.2:n.1450+5475G>A (RIC3) | ||
| NM_003320.5:c.*241C>T (TUB) | NP_003311.2:n.*241C>T |