Linked Data
ClinVar Variation Id:
228505
dbSNP Id:
rs766924822
ExAC:
10:73567368 A / G
gnomAD v2:
10-73567368-A-G
gnomAD v3:
10-71807611-A-G
gnomAD v4:
10-71807611-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71807611A>G , CM000672.2:g.71807611A>G | GRCh38 |
| NC_000010.10:g.73567368A>G , CM000672.1:g.73567368A>G | GRCh37 |
| NC_000010.9:g.73237374A>G | NCBI36 |
| NG_008835.1:g.415665A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.8404A>G MANE Select | ENSP00000224721.9:p.Ile2802Val | |
| ENST00000642965.1:c.2337A>G | ENSP00000495222.1:n.2337A>G | |
| ENST00000647092.1:c.2001A>G | ENSP00000495176.1:n.2001A>G | |
| ENST00000224721.10:c.8419A>G | ENSP00000224721.8:p.Ile2807Val | |
| ENST00000398788.4:c.1684A>G | ENSP00000381768.3:p.Ile562Val | |
| ENST00000475158.1:n.1940A>G | ||
| ENST00000619887.4:c.1684A>G | ENSP00000478374.1:p.Ile562Val | |
| ENST00000622827.4:c.8404A>G | ENSP00000483211.1:p.Ile2802Val | |
| NM_001171933.1:c.1684A>G | NP_001165404.1:p.Ile562Val | |
| NM_001171934.1:c.1684A>G | NP_001165405.1:p.Ile562Val | |
| NM_022124.5:c.8404A>G | NP_071407.4:p.Ile2802Val | |
| XM_006717940.2:c.8599A>G | XP_006718003.1:p.Ile2867Val | |
| XM_006717942.2:c.8533A>G | XP_006718005.1:p.Ile2845Val | |
| XM_011540039.1:c.8596A>G | XP_011538341.1:p.Ile2866Val | |
| XM_011540040.1:c.8593A>G | XP_011538342.1:p.Ile2865Val | |
| XM_011540041.1:c.8539A>G | XP_011538343.1:p.Ile2847Val | |
| XM_011540042.1:c.8509A>G | XP_011538344.1:p.Ile2837Val | |
| XM_011540043.1:c.8599A>G | XP_011538345.1:p.Ile2867Val | |
| XM_011540044.1:c.8464A>G | XP_011538346.1:p.Ile2822Val | |
| XM_011540045.1:c.8599A>G | XP_011538347.1:p.Ile2867Val | |
| XM_011540046.1:c.8059A>G | XP_011538348.1:p.Ile2687Val | |
| XM_011540047.1:c.7417A>G | XP_011538349.1:p.Ile2473Val | |
| XM_011540052.1:c.4927A>G | XP_011538354.1:p.Ile1643Val | |
| NM_022124.6:c.8404A>G MANE Select | NP_071407.4:p.Ile2802Val |