Linked Data
ClinVar Variation Id:
440420
dbSNP Id:
rs139449198
ExAC:
12:988766 A / G
gnomAD v2:
12-988766-A-G
gnomAD v3:
12-879600-A-G
gnomAD v4:
12-879600-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.879600A>G , CM000674.2:g.879600A>G | GRCh38 |
| NC_000012.11:g.988766A>G , CM000674.1:g.988766A>G | GRCh37 |
| NC_000012.10:g.859027A>G | NCBI36 |
| NG_007984.2:g.131542A>G | |
| NG_007984.3:g.131542A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.2401A>G MANE Select | ENSP00000313059.6:p.Ile801Val | |
| ENST00000340908.9:c.3867+1239A>G MANE Plus Clinical | ENSP00000341292.5:n.3867+1239A>G | |
| ENST00000674810.1:n.2998A>G | ||
| ENST00000675236.1:n.1296A>G | ||
| ENST00000675631.1:c.1180A>G | ENSP00000502415.1:p.Ile394Val | |
| ENST00000676347.1:c.558+1239A>G | ENSP00000501875.1:n.558+1239A>G | |
| ENST00000315939.10:c.2401A>G | ENSP00000313059.6:p.Ile801Val | |
| ENST00000340908.8:c.3867+1239A>G | ENSP00000341292.5:n.3867+1239A>G | |
| ENST00000530271.6:c.3640A>G | ENSP00000433548.3:p.Ile1214Val | |
| ENST00000535572.5:c.2370+1239A>G | ENSP00000441972.1:n.2370+1239A>G | |
| ENST00000535698.1:c.211A>G | ENSP00000439552.1:p.Ile71Val | |
| ENST00000537687.5:c.3613-1121A>G | ENSP00000444465.1:n.3613-1121A>G | |
| ENST00000542543.1:n.347+1239A>G | ||
| ENST00000544965.5:c.340+1239A>G | ||
| ENST00000545285.5:c.332-1121A>G | ||
| NM_001184985.1:c.3613-1121A>G | NP_001171914.1:n.3613-1121A>G | |
| NM_014823.2:c.2370+1239A>G | NP_055638.2:n.2370+1239A>G | |
| NM_018979.3:c.2401A>G | NP_061852.3:p.Ile801Val | |
| NM_213655.4:c.3867+1239A>G | NP_998820.3:n.3867+1239A>G | |
| XM_006719003.1:c.2398A>G | XP_006719066.1:p.Ile800Val | |
| XM_011520997.1:c.3640A>G | XP_011519299.1:p.Ile1214Val | |
| XM_011520998.1:c.3637A>G | XP_011519300.1:p.Ile1213Val | |
| XM_011520999.1:c.3640A>G | XP_011519301.1:p.Ile1214Val | |
| XM_011521000.1:c.3640A>G | XP_011519302.1:p.Ile1214Val | |
| XM_011521001.1:c.3640A>G | XP_011519303.1:p.Ile1214Val | |
| XM_011521002.1:c.3610-1121A>G | XP_011519304.1:n.3610-1121A>G | |
| XM_011521003.1:c.3612+1239A>G | XP_011519305.1:n.3612+1239A>G | |
| XM_011521004.1:c.3609+1239A>G | XP_011519306.1:n.3609+1239A>G | |
| XM_011521005.1:c.2419A>G | XP_011519307.1:p.Ile807Val | |
| XM_011521006.1:c.2317A>G | XP_011519308.1:p.Ile773Val | |
| XM_011521007.1:c.2314A>G | XP_011519309.1:p.Ile772Val | |
| XM_011521008.1:c.2289+1239A>G | XP_011519310.1:n.2289+1239A>G | |
| XM_011521009.1:c.2286+1239A>G | XP_011519311.1:n.2286+1239A>G | |
| XM_006719003.2:c.2398A>G | XP_006719066.1:p.Ile800Val | |
| XM_011520997.3:c.3640A>G | XP_011519299.1:p.Ile1214Val | |
| XM_011520998.2:c.3637A>G | XP_011519300.1:p.Ile1213Val | |
| XM_011520999.2:c.3640A>G | XP_011519301.1:p.Ile1214Val | |
| XM_011521000.2:c.3640A>G | XP_011519302.1:p.Ile1214Val | |
| XM_011521001.2:c.3640A>G | XP_011519303.1:p.Ile1214Val | |
| XM_011521002.2:c.3610-1121A>G | XP_011519304.1:n.3610-1121A>G | |
| XM_011521003.2:c.3612+1239A>G | XP_011519305.1:n.3612+1239A>G | |
| XM_011521004.2:c.3609+1239A>G | XP_011519306.1:n.3609+1239A>G | |
| XM_011521005.2:c.2419A>G | XP_011519307.1:p.Ile807Val | |
| XM_011521006.2:c.2317A>G | XP_011519308.1:p.Ile773Val | |
| XM_011521007.2:c.2314A>G | XP_011519309.1:p.Ile772Val | |
| XM_011521008.2:c.2289+1239A>G | XP_011519310.1:n.2289+1239A>G | |
| XM_011521009.2:c.2286+1239A>G | XP_011519311.1:n.2286+1239A>G | |
| XM_017019834.1:c.2371-1121A>G | XP_016875323.1:n.2371-1121A>G | |
| XM_017019835.1:c.2290-1121A>G | XP_016875324.1:n.2290-1121A>G | |
| XM_017019836.1:c.2287-1121A>G | XP_016875325.1:n.2287-1121A>G | |
| XM_017019837.1:c.2373+1239A>G | XP_016875326.1:n.2373+1239A>G | |
| XM_017019838.1:c.2370+1239A>G | XP_016875327.1:n.2370+1239A>G | |
| XM_017019839.1:c.2289+1239A>G | XP_016875328.1:n.2289+1239A>G | |
| NM_018979.4:c.2401A>G MANE Select | NP_061852.3:p.Ile801Val | |
| NM_014823.3:c.2370+1239A>G | NP_055638.2:n.2370+1239A>G | |
| NM_001184985.2:c.3613-1121A>G | NP_001171914.1:n.3613-1121A>G | |
| NM_213655.5:c.3867+1239A>G MANE Plus Clinical | NP_998820.3:n.3867+1239A>G |