Linked Data
ClinVar Variation Id:
858341
dbSNP Id:
rs1675915480
gnomAD v4:
1-193142046-A-G
COSMIC:
COSM6060239
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193142046A>G , CM000663.2:g.193142046A>G | GRCh38 |
| NC_000001.10:g.193111176A>G , CM000663.1:g.193111176A>G | GRCh37 |
| NC_000001.9:g.191377799A>G | NCBI36 |
| NG_012691.1:g.25089A>G , LRG_507:g.25089A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.709A>G MANE Select | ENSP00000356405.4:p.Ile237Val | |
| ENST00000635846.1:c.709A>G | ENSP00000490035.1:p.Ile237Val | |
| ENST00000643006.1:c.709A>G | ENSP00000496633.1:p.Ile237Val | |
| ENST00000643784.1:c.*185A>G | ENSP00000494944.1:n.*185A>G | |
| ENST00000647662.1:n.610A>G | ||
| ENST00000648071.1:c.*685A>G | ENSP00000497513.1:n.*685A>G | |
| ENST00000649606.1:n.722A>G | ||
| ENST00000649895.1:n.927A>G | ||
| ENST00000650197.1:c.709A>G | ENSP00000496929.1:p.Ile237Val | |
| ENST00000367435.3:c.709A>G | ENSP00000356405.3:p.Ile237Val | |
| NM_024529.4:c.709A>G , LRG_507t1:c.709A>G | NP_078805.3:p.Ile237Val | |
| XM_006711537.2:c.709A>G | XP_006711600.1:p.Ile237Val | |
| XM_006711537.4:c.709A>G | XP_006711600.1:p.Ile237Val | |
| NM_024529.5:c.709A>G MANE Select | NP_078805.3:p.Ile237Val |