Linked Data
ClinVar Variation Id:
214935
dbSNP Id:
rs863224146
gnomAD v4:
X-19358926-C-T
ERepo:
CA321113/MONDO:0019169/014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19358926C>T , CM000685.2:g.19358926C>T | GRCh38 |
| NC_000023.10:g.19377044C>T , CM000685.1:g.19377044C>T | GRCh37 |
| NC_000023.9:g.19286965C>T | NCBI36 |
| NG_016781.1:g.20034C>T | |
| NG_021184.1:g.161336G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.931C>T | ENSP00000348062.6:p.Arg311Ter | |
| ENST00000379805.4:c.*602C>T | ENSP00000369133.3:n.*602C>T | |
| ENST00000417819.6:c.994C>T | ENSP00000404616.2:p.Arg332Ter | |
| ENST00000423505.6:c.1024C>T | ENSP00000406473.2:p.Arg342Ter | |
| ENST00000481733.2:n.705C>T | ||
| ENST00000696704.1:c.*242C>T | ENSP00000512823.1:n.*242C>T | |
| ENST00000696705.1:c.*365C>T | ENSP00000512824.1:n.*365C>T | |
| ENST00000422285.7:c.910C>T MANE Select | ENSP00000394382.2:p.Arg304Ter | |
| ENST00000379804.1:c.67C>T | ENSP00000369132.1:p.Arg23Ter | |
| ENST00000379806.9:c.1024C>T | ENSP00000369134.5:p.Arg342Ter | |
| ENST00000422285.6:c.910C>T | ENSP00000394382.2:p.Arg304Ter | |
| ENST00000478795.1:n.349C>T | ||
| ENST00000481733.1:n.338C>T | ||
| ENST00000540249.5:c.817C>T | ENSP00000440761.1:p.Arg273Ter | |
| ENST00000545074.5:c.931C>T | ENSP00000438550.1:p.Arg311Ter | |
| NM_000284.3:c.910C>T | NP_000275.1:p.Arg304Ter | |
| NM_001173454.1:c.1024C>T | NP_001166925.1:p.Arg342Ter | |
| NM_001173455.1:c.931C>T | NP_001166926.1:p.Arg311Ter | |
| NM_001173456.1:c.817C>T | NP_001166927.1:p.Arg273Ter | |
| XM_011545531.1:c.1045C>T | XP_011543833.1:p.Arg349Ter | |
| XM_011545532.1:c.952C>T | XP_011543834.1:p.Arg318Ter | |
| XM_017029574.2:c.931C>T | XP_016885063.1:p.Arg311Ter | |
| NM_000284.4:c.910C>T MANE Select | NP_000275.1:p.Arg304Ter | |
| NM_001173454.2:c.1024C>T | NP_001166925.1:p.Arg342Ter | |
| NM_001173455.2:c.931C>T | NP_001166926.1:p.Arg311Ter | |
| NM_001173456.2:c.817C>T | NP_001166927.1:p.Arg273Ter |