Linked Data
ClinVar Variation Id:
1677240
ClinVar RCV Id:
RCV002223098
dbSNP Id:
rs1841701549
gnomAD v3:
10-71805938-A-G
gnomAD v4:
10-71805938-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71805938A>G , CM000672.2:g.71805938A>G | GRCh38 |
| NC_000010.10:g.73565695A>G , CM000672.1:g.73565695A>G | GRCh37 |
| NC_000010.9:g.73235701A>G | NCBI36 |
| NG_008835.1:g.413992A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.8005A>G MANE Select | ENSP00000224721.9:p.Ile2669Val | |
| ENST00000642965.1:c.1938A>G | ENSP00000495222.1:n.1938A>G | |
| ENST00000647092.1:c.1602A>G | ENSP00000495176.1:n.1602A>G | |
| ENST00000224721.10:c.8020A>G | ENSP00000224721.8:p.Ile2674Val | |
| ENST00000398788.4:c.1285A>G | ENSP00000381768.3:p.Ile429Val | |
| ENST00000475158.1:n.1541A>G | ||
| ENST00000619887.4:c.1285A>G | ENSP00000478374.1:p.Ile429Val | |
| ENST00000622827.4:c.8005A>G | ENSP00000483211.1:p.Ile2669Val | |
| NM_001171933.1:c.1285A>G | NP_001165404.1:p.Ile429Val | |
| NM_001171934.1:c.1285A>G | NP_001165405.1:p.Ile429Val | |
| NM_022124.5:c.8005A>G | NP_071407.4:p.Ile2669Val | |
| XM_006717940.2:c.8200A>G | XP_006718003.1:p.Ile2734Val | |
| XM_006717942.2:c.8134A>G | XP_006718005.1:p.Ile2712Val | |
| XM_011540039.1:c.8197A>G | XP_011538341.1:p.Ile2733Val | |
| XM_011540040.1:c.8194A>G | XP_011538342.1:p.Ile2732Val | |
| XM_011540041.1:c.8140A>G | XP_011538343.1:p.Ile2714Val | |
| XM_011540042.1:c.8110A>G | XP_011538344.1:p.Ile2704Val | |
| XM_011540043.1:c.8200A>G | XP_011538345.1:p.Ile2734Val | |
| XM_011540044.1:c.8065A>G | XP_011538346.1:p.Ile2689Val | |
| XM_011540045.1:c.8200A>G | XP_011538347.1:p.Ile2734Val | |
| XM_011540046.1:c.7660A>G | XP_011538348.1:p.Ile2554Val | |
| XM_011540047.1:c.7018A>G | XP_011538349.1:p.Ile2340Val | |
| XM_011540052.1:c.4528A>G | XP_011538354.1:p.Ile1510Val | |
| NM_022124.6:c.8005A>G MANE Select | NP_071407.4:p.Ile2669Val |