Linked Data
ClinVar Variation Id:
459918
dbSNP Id:
rs11913840
ExAC:
22:18912677 C / T
gnomAD v2:
22-18912677-C-T
gnomAD v4:
22-18925164-C-T
PubMed:
PMID:15662599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18925164C>T , CM000684.2:g.18925164C>T | GRCh38 |
| NC_000022.10:g.18912677C>T , CM000684.1:g.18912677C>T | GRCh37 |
| NC_000022.9:g.17292677C>T | NCBI36 |
| NG_008226.2:g.16390G>A | |
| NG_008226.3:g.16390G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.554G>A MANE Select | ENSP00000349577.6:p.Trp185Ter | |
| ENST00000638240.1:c.513+14136C>T | ENSP00000492446.1:n.513+14136C>T | |
| ENST00000334029.6:c.230G>A | ENSP00000334726.2:p.Trp77Ter | |
| ENST00000357068.10:c.554G>A | ENSP00000349577.6:p.Trp185Ter | |
| ENST00000420436.5:c.230G>A | ENSP00000410805.1:p.Trp77Ter | |
| ENST00000438924.5:c.200G>A | ||
| ENST00000450579.1:c.77G>A | ENSP00000396806.1:p.Trp26Ter | |
| ENST00000457083.1:c.324G>A | ||
| ENST00000482858.5:n.409G>A | ||
| ENST00000491604.5:n.562G>A | ||
| ENST00000496625.1:n.193G>A | ||
| ENST00000610940.4:c.554G>A | ENSP00000480347.1:p.Trp185Ter | |
| NM_001195226.1:c.230G>A | NP_001182155.1:p.Arg77Gln | |
| NM_016335.4:c.554G>A | NP_057419.4:p.Arg185Gln | |
| XM_011530278.1:c.46G>A | XP_011528580.1:p.Gly16Arg | |
| XR_937876.1:n.587G>A | ||
| NM_001195226.2:c.230G>A | NP_001182155.2:p.Trp77Ter | |
| NM_016335.5:c.554G>A | NP_057419.5:p.Trp185Ter | |
| NM_016335.6:c.554G>A MANE Select | NP_057419.5:p.Trp185Ter |