Linked Data
ClinVar Variation Id:
1211134
ClinVar RCV Id:
RCV001587612
dbSNP Id:
rs377420893
ExAC:
22:18609172 G / T
gnomAD v2:
22-18609172-G-T
gnomAD v3:
22-18126405-G-T
gnomAD v4:
22-18126405-G-T
PubMed:
PMID:24974849
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18126405G>T , CM000684.2:g.18126405G>T | GRCh38 |
| NC_000022.10:g.18609172G>T , CM000684.1:g.18609172G>T | GRCh37 |
| NC_000022.9:g.16989172G>T | NCBI36 |
| NG_023429.1:g.20720G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330423.8:c.427G>T (TUBA8) MANE Select | ENSP00000333326.3:p.Gly143Trp | |
| ENST00000416740.2:c.229G>T (TUBA8) | ENSP00000412646.2:p.Gly77Trp | |
| ENST00000474897.6:c.*317G>T | ENSP00000434235.2:n.*317G>T | |
| ENST00000679481.1:n.796G>T (TUBA8) | ||
| ENST00000679963.1:c.229G>T (TUBA8) | ENSP00000505896.1:p.Gly77Trp | |
| ENST00000680175.1:c.427G>T (TUBA8) | ENSP00000505461.1:p.Gly143Trp | |
| ENST00000316027.10:c.229G>T (TUBA8) | ENSP00000318575.6:p.Gly77Trp | |
| ENST00000330423.7:c.427G>T (TUBA8) | ENSP00000333326.3:p.Gly143Trp | |
| ENST00000416740.1:c.499G>T (TUBA8) | ENSP00000412646.1:p.Gly167Trp | |
| ENST00000474897.5:c.*225G>T (PEX26) | ENSP00000434235.1:n.*225G>T | |
| NM_001193414.1:c.229G>T (TUBA8) | NP_001180343.1:p.Gly77Trp | |
| NM_018943.2:c.427G>T (TUBA8) | NP_061816.1:p.Gly143Trp | |
| NM_018943.3:c.427G>T (TUBA8) MANE Select | NP_061816.1:p.Gly143Trp | |
| NM_001193414.2:c.229G>T (TUBA8) | NP_001180343.1:p.Gly77Trp |