Linked Data
ClinVar Variation Id:
24785
dbSNP Id:
rs281874753
gnomAD v4:
X-108696340-C-T
PubMed:
PMID:20378821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108696340C>T , CM000685.2:g.108696340C>T | GRCh38 |
| NC_000023.10:g.107939570C>T , CM000685.1:g.107939570C>T | GRCh37 |
| NC_000023.9:g.107826226C>T | NCBI36 |
| NG_011977.1:g.261417C>T | |
| NG_011977.2:g.261417C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.5038C>T MANE Select | ENSP00000331902.7:p.Arg1680Ter | |
| ENST00000361603.7:c.5020C>T | ENSP00000354505.2:p.Arg1674Ter | |
| ENST00000510690.2:n.1532C>T | ||
| ENST00000644079.1:n.2726C>T | ||
| ENST00000328300.10:c.5038C>T | ENSP00000331902.6:p.Arg1680Ter | |
| ENST00000361603.6:c.5020C>T | ENSP00000354505.2:p.Arg1674Ter | |
| ENST00000504541.1:c.263C>T | ENSP00000424845.1:n.263C>T | |
| ENST00000515658.1:c.368C>T | ||
| NM_000495.4:c.5020C>T | NP_000486.1:p.Arg1674Ter | |
| NM_033380.2:c.5038C>T | NP_203699.1:p.Arg1680Ter | |
| XM_005262070.2:c.5029C>T | XP_005262127.1:p.Arg1677Ter | |
| XM_006724616.2:c.5038C>T | XP_006724679.1:p.Arg1680Ter | |
| XM_011530849.1:c.4714C>T | XP_011529151.1:p.Arg1572Ter | |
| XM_011530851.1:c.2611C>T | XP_011529153.1:p.Arg871Ter | |
| XM_011530849.2:c.5053C>T | XP_011529151.2:p.Arg1685Ter | |
| XM_017029259.2:c.5044C>T | XP_016884748.1:p.Arg1682Ter | |
| XM_017029260.1:c.5035C>T | XP_016884749.1:p.Arg1679Ter | |
| XM_017029263.2:c.3373C>T | XP_016884752.1:p.Arg1125Ter | |
| NM_000495.5:c.5020C>T | NP_000486.1:p.Arg1674Ter | |
| NM_033380.3:c.5038C>T MANE Select | NP_203699.1:p.Arg1680Ter |