Linked Data
ClinVar Variation Id:
1358349
ClinVar RCV Id:
RCV001904139
dbSNP Id:
rs1004021945
gnomAD v4:
18-31592947-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31592947C>T , CM000680.2:g.31592947C>T | GRCh38 |
| NC_000018.9:g.29172910C>T , CM000680.1:g.29172910C>T | GRCh37 |
| NC_000018.8:g.27426908C>T | NCBI36 |
| NG_009490.1:g.6181C>T , LRG_416:g.6181C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.121C>T MANE Select | ENSP00000237014.4:p.Arg41Ter | |
| ENST00000610404.5:c.25C>T | ENSP00000477599.2:p.Arg9Ter | |
| ENST00000649620.1:c.121C>T | ENSP00000497927.1:p.Arg41Ter | |
| ENST00000237014.7:c.121C>T | ENSP00000237014.3:p.Arg41Ter | |
| ENST00000432547.7:n.147C>T | ||
| ENST00000541025.2:n.147C>T | ||
| ENST00000610404.4:c.121C>T | ENSP00000477599.1:p.Arg41Ter | |
| ENST00000613781.1:c.121C>T | ENSP00000479174.1:p.Arg41Ter | |
| NM_000371.3:c.121C>T , LRG_416t1:c.121C>T | NP_000362.1:p.Arg41Ter | |
| NM_000371.4:c.121C>T MANE Select | NP_000362.1:p.Arg41Ter |