Linked Data
ClinVar Variation Id:
392120
ClinVar RCV Id:
RCV000436360
dbSNP Id:
rs1057524364
gnomAD v4:
1-173853359-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173853359T>G , CM000663.2:g.173853359T>G | GRCh38 |
| NC_000001.10:g.173822497T>G , CM000663.1:g.173822497T>G | GRCh37 |
| NC_000001.9:g.172089120T>G | NCBI36 |
| NG_016138.1:g.33701T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471476.2:c.*1045T>G | ENSP00000497663.1:n.*1045T>G | |
| ENST00000647645.1:c.1292T>G | ENSP00000497450.1:p.Leu431Ter | |
| ENST00000647730.1:c.*1045T>G | ENSP00000497781.1:n.*1045T>G | |
| ENST00000647788.1:c.*819-3307T>G | ENSP00000497769.1:n.*819-3307T>G | |
| ENST00000648271.1:c.*1045T>G | ENSP00000497795.1:n.*1045T>G | |
| ENST00000648807.1:c.1202T>G | ENSP00000497472.1:p.Leu401Ter | |
| ENST00000648960.1:c.1192-3307T>G | ENSP00000497091.1:n.1192-3307T>G | |
| ENST00000649067.1:c.1202T>G | ENSP00000497052.1:p.Leu401Ter | |
| ENST00000649106.1:c.634T>G | ||
| ENST00000649689.2:c.1355T>G MANE Select | ENSP00000497569.1:p.Leu452Ter | |
| ENST00000650297.1:n.1738T>G | ||
| ENST00000361951.4:c.1355T>G | ENSP00000355086.4:p.Leu452Ter | |
| ENST00000471476.1:n.288T>G | ||
| NM_018122.4:c.1355T>G | NP_060592.2:p.Leu452Ter | |
| XM_006711427.2:c.1202T>G | XP_006711490.1:p.Leu401Ter | |
| NM_001365212.1:c.1202T>G | NP_001352141.1:p.Leu401Ter | |
| NM_018122.5:c.1355T>G MANE Select | NP_060592.2:p.Leu452Ter |