Linked Data
dbSNP Id:
rs970391281
gnomAD v2:
11-8123567-C-T
gnomAD v3:
11-8102020-C-T
gnomAD v4:
11-8102020-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8102020C>T , CM000673.2:g.8102020C>T | GRCh38 |
| NC_000011.9:g.8123567C>T , CM000673.1:g.8123567C>T | GRCh37 |
| NC_000011.8:g.8080143C>T | NCBI36 |
| NG_029912.1:g.68388C>T | |
| NG_030416.2:g.72024G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.*401C>T (TUB) MANE Select | ENSP00000299506.3:n.*401C>T | |
| ENST00000305253.8:c.*401C>T (TUB) | ENSP00000305426.4:n.*401C>T | |
| NM_003320.4:c.*401C>T (TUB) | NP_003311.2:n.*401C>T | |
| NM_177972.2:c.*401C>T (TUB) | NP_813977.1:n.*401C>T | |
| XM_005253109.2:c.*401C>T (TUB) | XP_005253166.1:n.*401C>T | |
| XM_011520344.1:c.*401C>T (TUB) | XP_011518646.1:n.*401C>T | |
| XR_428851.2:n.1484-7861G>A (RIC3) | ||
| XR_930896.1:n.1546+5315G>A (RIC3) | ||
| XR_930900.1:n.1547-4298G>A (RIC3) | ||
| NR_144485.1:n.1519+5315G>A (RIC3) | ||
| XM_005253109.3:c.*401C>T (TUB) | XP_005253166.1:n.*401C>T | |
| XM_011520344.2:c.*401C>T (TUB) | XP_011518646.1:n.*401C>T | |
| XR_001747957.2:n.1335-7861G>A (RIC3) | ||
| XR_428851.4:n.1422-7861G>A (RIC3) | ||
| XR_930896.3:n.1484+5315G>A (RIC3) | ||
| XR_930900.3:n.1485-4298G>A (RIC3) | ||
| NM_177972.3:c.*401C>T (TUB) MANE Select | NP_813977.1:n.*401C>T | |
| NR_144485.2:n.1450+5315G>A (RIC3) | ||
| NM_003320.5:c.*401C>T (TUB) | NP_003311.2:n.*401C>T |