Linked Data
ClinVar Variation Id:
24755
ClinVar RCV Id:
RCV001328294
dbSNP Id:
rs104886286
PubMed:
PMID:8940267
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108692924C>T , CM000685.2:g.108692924C>T | GRCh38 |
| NC_000023.10:g.107936154C>T , CM000685.1:g.107936154C>T | GRCh37 |
| NC_000023.9:g.107822810C>T | NCBI36 |
| NG_011977.1:g.258001C>T | |
| NG_011977.2:g.258001C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.4705C>T MANE Select | ENSP00000331902.7:p.Arg1569Ter | |
| ENST00000361603.7:c.4687C>T | ENSP00000354505.2:p.Arg1563Ter | |
| ENST00000510690.2:n.1199C>T | ||
| ENST00000328300.10:c.4705C>T | ENSP00000331902.6:p.Arg1569Ter | |
| ENST00000361603.6:c.4687C>T | ENSP00000354505.2:p.Arg1563Ter | |
| ENST00000504541.1:c.103C>T | ENSP00000424845.1:p.Arg35Ter | |
| ENST00000515658.1:c.325-3373C>T | ||
| NM_000495.4:c.4687C>T | NP_000486.1:p.Arg1563Ter | |
| NM_033380.2:c.4705C>T | NP_203699.1:p.Arg1569Ter | |
| XM_005262070.2:c.4696C>T | XP_005262127.1:p.Arg1566Ter | |
| XM_006724616.2:c.4705C>T | XP_006724679.1:p.Arg1569Ter | |
| XM_011530849.1:c.4381C>T | XP_011529151.1:p.Arg1461Ter | |
| XM_011530851.1:c.2278C>T | XP_011529153.1:p.Arg760Ter | |
| XM_011530849.2:c.4720C>T | XP_011529151.2:p.Arg1574Ter | |
| XM_017029259.2:c.4711C>T | XP_016884748.1:p.Arg1571Ter | |
| XM_017029260.1:c.4702C>T | XP_016884749.1:p.Arg1568Ter | |
| XM_017029263.2:c.3040C>T | XP_016884752.1:p.Arg1014Ter | |
| NM_000495.5:c.4687C>T | NP_000486.1:p.Arg1563Ter | |
| NM_033380.3:c.4705C>T MANE Select | NP_203699.1:p.Arg1569Ter |