Linked Data
ClinVar Variation Id:
933300
dbSNP Id:
rs368907491
ExAC:
11:8123143 G / A
gnomAD v2:
11-8123143-G-A
gnomAD v3:
11-8101596-G-A
gnomAD v4:
11-8101596-G-A
COSMIC:
COSM3416274
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8101596G>A , CM000673.2:g.8101596G>A | GRCh38 |
| NC_000011.9:g.8123143G>A , CM000673.1:g.8123143G>A | GRCh37 |
| NC_000011.8:g.8079719G>A | NCBI36 |
| NG_029912.1:g.67964G>A | |
| NG_030416.2:g.72448C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.1498G>A (TUB) MANE Select | ENSP00000299506.3:p.Asp500Asn | |
| ENST00000299506.2:c.1498G>A (TUB) | ENSP00000299506.2:p.Asp500Asn | |
| ENST00000305253.8:c.1663G>A (TUB) | ENSP00000305426.4:p.Asp555Asn | |
| ENST00000534099.5:c.1516G>A (TUB) | ENSP00000434400.1:p.Asp506Asn | |
| NM_003320.4:c.1663G>A (TUB) | NP_003311.2:p.Asp555Asn | |
| NM_177972.2:c.1498G>A (TUB) | NP_813977.1:p.Asp500Asn | |
| XM_005253109.2:c.1624G>A (TUB) | XP_005253166.1:p.Asp542Asn | |
| XM_011520344.1:c.1534G>A (TUB) | XP_011518646.1:p.Asp512Asn | |
| XR_428851.2:n.1484-7437C>T (RIC3) | ||
| XR_930896.1:n.1546+5739C>T (RIC3) | ||
| XR_930900.1:n.1547-3874C>T (RIC3) | ||
| NR_144485.1:n.1519+5739C>T (RIC3) | ||
| XM_005253109.3:c.1624G>A (TUB) | XP_005253166.1:p.Asp542Asn | |
| XM_011520344.2:c.1534G>A (TUB) | XP_011518646.1:p.Asp512Asn | |
| XR_001747957.2:n.1335-7437C>T (RIC3) | ||
| XR_428851.4:n.1422-7437C>T (RIC3) | ||
| XR_930896.3:n.1484+5739C>T (RIC3) | ||
| XR_930900.3:n.1485-3874C>T (RIC3) | ||
| NM_177972.3:c.1498G>A (TUB) MANE Select | NP_813977.1:p.Asp500Asn | |
| NR_144485.2:n.1450+5739C>T (RIC3) | ||
| NM_003320.5:c.1663G>A (TUB) | NP_003311.2:p.Asp555Asn |