Linked Data
ClinVar Variation Id:
2886396
ClinVar RCV Id:
RCV003640851
dbSNP Id:
rs780310443
ExAC:
21:38862659 A / G
gnomAD v2:
21-38862659-A-G
gnomAD v3:
21-37490357-A-G
gnomAD v4:
21-37490357-A-G
COSMIC:
COSM77623
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37490357A>G , CM000683.2:g.37490357A>G | GRCh38 |
| NC_000021.8:g.38862659A>G , CM000683.1:g.38862659A>G | GRCh37 |
| NC_000021.7:g.37784529A>G | NCBI36 |
| NG_009366.1:g.127801A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338785.8:c.847A>G | ENSP00000342690.3:p.Ile283Val | |
| ENST00000398960.7:c.847A>G | ENSP00000381932.2:p.Ile283Val | |
| ENST00000642309.1:c.733A>G | ENSP00000495596.1:p.Ile245Val | |
| ENST00000643624.1:c.820A>G | ENSP00000493627.1:p.Ile274Val | |
| ENST00000643808.1:n.650A>G | ||
| ENST00000643854.1:c.733A>G | ENSP00000493653.1:p.Ile245Val | |
| ENST00000644367.1:n.211A>G | ||
| ENST00000644942.1:c.847A>G | ENSP00000494544.1:p.Ile283Val | |
| ENST00000645424.1:c.847A>G | ENSP00000494897.1:p.Ile283Val | |
| ENST00000645774.1:c.868A>G | ENSP00000494536.1:p.Ile290Val | |
| ENST00000646224.1:n.262A>G | ||
| ENST00000646523.1:c.847A>G | ENSP00000495632.1:p.Ile283Val | |
| ENST00000646548.1:c.820A>G | ENSP00000495908.1:p.Ile274Val | |
| ENST00000647188.2:c.820A>G MANE Select | ENSP00000494572.1:p.Ile274Val | |
| ENST00000647425.1:c.820A>G | ENSP00000496748.1:p.Ile274Val | |
| ENST00000647504.1:c.733A>G | ENSP00000495571.1:p.Ile245Val | |
| ENST00000338785.7:c.847A>G | ENSP00000342690.3:p.Ile283Val | |
| ENST00000339659.8:c.820A>G | ENSP00000340373.3:p.Ile274Val | |
| ENST00000398956.2:c.847A>G | ENSP00000381929.2:p.Ile283Val | |
| ENST00000398960.6:c.847A>G | ENSP00000381932.2:p.Ile283Val | |
| NM_001396.3:c.847A>G | NP_001387.2:p.Ile283Val | |
| NM_101395.2:c.847A>G | NP_567824.1:p.Ile283Val | |
| NM_130436.2:c.820A>G | NP_569120.1:p.Ile274Val | |
| NM_130438.2:c.847A>G | NP_569122.1:p.Ile283Val | |
| XM_005260931.3:c.760A>G | XP_005260988.1:p.Ile254Val | |
| XM_005260933.3:c.163A>G | XP_005260990.1:p.Ile55Val | |
| XM_006723976.2:c.847A>G | XP_006724039.1:p.Ile283Val | |
| XM_006723977.2:c.847A>G | XP_006724040.1:p.Ile283Val | |
| XM_006723978.2:c.847A>G | XP_006724041.1:p.Ile283Val | |
| XM_006723979.2:c.820A>G | XP_006724042.1:p.Ile274Val | |
| XM_011529482.1:c.868A>G | XP_011527784.1:p.Ile290Val | |
| XM_011529483.1:c.847A>G | XP_011527785.1:p.Ile283Val | |
| XM_011529484.1:c.841A>G | XP_011527786.1:p.Ile281Val | |
| XM_011529485.1:c.733A>G | XP_011527787.1:p.Ile245Val | |
| NM_001347721.1:c.820A>G | NP_001334650.1:p.Ile274Val | |
| NM_001347722.1:c.820A>G | NP_001334651.1:p.Ile274Val | |
| NM_001347723.1:c.733A>G | NP_001334652.1:p.Ile245Val | |
| NM_001396.4:c.847A>G | NP_001387.2:p.Ile283Val | |
| XM_005260933.5:c.163A>G | XP_005260990.1:p.Ile55Val | |
| XM_006723976.3:c.847A>G | XP_006724039.1:p.Ile283Val | |
| XM_006723977.3:c.847A>G | XP_006724040.1:p.Ile283Val | |
| XM_006723978.3:c.847A>G | XP_006724041.1:p.Ile283Val | |
| XM_011529483.2:c.847A>G | XP_011527785.1:p.Ile283Val | |
| XM_017028284.1:c.820A>G | XP_016883773.1:p.Ile274Val | |
| XM_017028286.2:c.760A>G | XP_016883775.1:p.Ile254Val | |
| XM_024452057.1:c.733A>G | XP_024307825.1:p.Ile245Val | |
| NM_001347721.2:c.820A>G MANE Select | NP_001334650.1:p.Ile274Val | |
| NM_001347722.2:c.820A>G | NP_001334651.1:p.Ile274Val | |
| NM_001347723.2:c.733A>G | NP_001334652.1:p.Ile245Val | |
| NM_001396.5:c.847A>G | NP_001387.2:p.Ile283Val |