Linked Data
dbSNP Id:
rs1064794825
gnomAD v3:
1-173833388-C-G
gnomAD v4:
1-173833388-C-G
COSMIC:
COSM117404
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173833388C>G , CM000663.2:g.173833388C>G | GRCh38 |
| NC_000001.10:g.173802526C>G , CM000663.1:g.173802526C>G | GRCh37 |
| NC_000001.9:g.172069149C>G | NCBI36 |
| NG_016138.1:g.13730C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471476.2:c.*195C>G | ENSP00000497663.1:n.*195C>G | |
| ENST00000647645.1:c.505C>G | ENSP00000497450.1:p.Leu169Val | |
| ENST00000647730.1:c.*195C>G | ENSP00000497781.1:n.*195C>G | |
| ENST00000647788.1:c.*195C>G | ENSP00000497769.1:n.*195C>G | |
| ENST00000648271.1:c.*195C>G | ENSP00000497795.1:n.*195C>G | |
| ENST00000648458.1:c.505C>G | ENSP00000497874.1:p.Leu169Val | |
| ENST00000648807.1:c.505C>G | ENSP00000497472.1:p.Leu169Val | |
| ENST00000648960.1:c.505C>G | ENSP00000497091.1:p.Leu169Val | |
| ENST00000649067.1:c.505C>G | ENSP00000497052.1:p.Leu169Val | |
| ENST00000649689.2:c.505C>G MANE Select | ENSP00000497569.1:p.Leu169Val | |
| ENST00000650297.1:n.888C>G | ||
| ENST00000361951.4:c.505C>G | ENSP00000355086.4:p.Leu169Val | |
| NM_018122.4:c.505C>G | NP_060592.2:p.Leu169Val | |
| XM_006711427.2:c.505C>G | XP_006711490.1:p.Leu169Val | |
| XM_011509711.1:c.505C>G | XP_011508013.1:p.Leu169Val | |
| NM_001365212.1:c.505C>G | NP_001352141.1:p.Leu169Val | |
| NM_001365213.1:c.505C>G | NP_001352142.1:p.Leu169Val | |
| NM_018122.5:c.505C>G MANE Select | NP_060592.2:p.Leu169Val | |
| NM_001365213.2:c.505C>G | NP_001352142.1:p.Leu169Val |