Linked Data
ClinVar Variation Id:
1790883
ClinVar RCV Id:
RCV002450330
dbSNP Id:
rs1801033415
gnomAD v4:
7-150949038-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150949038T>C , CM000669.2:g.150949038T>C | GRCh38 |
| NC_000007.13:g.150646126T>C , CM000669.1:g.150646126T>C | GRCh37 |
| NC_000007.12:g.150277059T>C | NCBI36 |
| NG_008916.1:g.33889A>G , LRG_288:g.33889A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3243A>G | ||
| ENST00000262186.10:c.2410A>G MANE Select | ENSP00000262186.5:p.Ile804Val | |
| ENST00000330883.9:c.1390A>G | ENSP00000328531.4:p.Ile464Val | |
| ENST00000262186.9:c.2410A>G | ENSP00000262186.5:p.Ile804Val | |
| ENST00000330883.8:c.1390A>G | ENSP00000328531.4:p.Ile464Val | |
| NM_000238.3:c.2410A>G , LRG_288t1:c.2410A>G | NP_000229.1:p.Ile804Val | |
| NM_172057.2:c.1390A>G , LRG_288t3:c.1390A>G | NP_742054.1:p.Ile464Val | |
| XM_011516185.1:c.2110A>G | XP_011514487.1:p.Ile704Val | |
| XM_011516186.1:c.2410A>G | XP_011514488.1:p.Ile804Val | |
| XM_011516185.2:c.2110A>G | XP_011514487.1:p.Ile704Val | |
| XM_011516186.3:c.2410A>G | XP_011514488.1:p.Ile804Val | |
| XM_017012195.1:c.2260A>G | XP_016867684.1:p.Ile754Val | |
| XM_017012196.1:c.2233A>G | XP_016867685.1:p.Ile745Val | |
| NM_000238.4:c.2410A>G MANE Select | NP_000229.1:p.Ile804Val | |
| NM_172057.3:c.1390A>G | NP_742054.1:p.Ile464Val |