Linked Data
dbSNP Id:
rs190902651
ExAC:
12:39703437 T / C
gnomAD v2:
12-39703437-T-C
gnomAD v3:
12-39309635-T-C
gnomAD v4:
12-39309635-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.39309635T>C , CM000674.2:g.39309635T>C | GRCh38 |
| NC_000012.11:g.39703437T>C , CM000674.1:g.39703437T>C | GRCh37 |
| NC_000012.10:g.37989704T>C | NCBI36 |
| NG_017067.1:g.138756A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361418.10:c.4228A>G MANE Select | ENSP00000354878.5:p.Ile1410Val | |
| ENST00000636569.1:c.4165A>G | ENSP00000490369.1:p.Ile1389Val | |
| ENST00000361418.9:c.4228A>G | ENSP00000354878.5:p.Ile1410Val | |
| ENST00000361961.7:c.4189A>G | ENSP00000354851.3:p.Ile1397Val | |
| ENST00000541463.6:c.4069A>G | ENSP00000438075.2:p.Ile1357Val | |
| ENST00000544797.6:c.4117A>G | ENSP00000445606.2:p.Ile1373Val | |
| ENST00000547733.1:n.1542A>G | ||
| ENST00000551264.5:c.1171A>G | ENSP00000448792.1:p.Ile391Val | |
| ENST00000552961.5:c.2130A>G | ||
| NM_001173463.1:c.4117A>G | NP_001166934.1:p.Ile1373Val | |
| NM_001173464.1:c.4228A>G | NP_001166935.1:p.Ile1410Val | |
| NM_001173465.1:c.4069A>G | NP_001166936.1:p.Ile1357Val | |
| NM_017641.3:c.4189A>G | NP_060111.2:p.Ile1397Val | |
| XM_005269007.1:c.4231A>G | XP_005269064.1:p.Ile1411Val | |
| XM_005269008.1:c.4216A>G | XP_005269065.1:p.Ile1406Val | |
| XM_005269009.1:c.4210A>G | XP_005269066.1:p.Ile1404Val | |
| XM_005269010.1:c.4192A>G | XP_005269067.1:p.Ile1398Val | |
| XM_005269011.1:c.4177A>G | XP_005269068.1:p.Ile1393Val | |
| XM_005269012.1:c.4102A>G | XP_005269069.1:p.Ile1368Val | |
| XM_005269013.1:c.4087A>G | XP_005269070.1:p.Ile1363Val | |
| XM_005269014.1:c.4048A>G | XP_005269071.1:p.Ile1350Val | |
| XM_006719493.1:c.4171A>G | XP_006719556.1:p.Ile1391Val | |
| XM_006719494.1:c.4099A>G | XP_006719557.1:p.Ile1367Val | |
| XM_006719496.1:c.4156A>G | XP_006719559.1:p.Ile1386Val | |
| XM_011538556.1:c.4162A>G | XP_011536858.1:p.Ile1388Val | |
| XM_005269007.3:c.4231A>G | XP_005269064.1:p.Ile1411Val | |
| XM_005269008.3:c.4216A>G | XP_005269065.1:p.Ile1406Val | |
| XM_005269009.3:c.4210A>G | XP_005269066.1:p.Ile1404Val | |
| XM_005269010.3:c.4192A>G | XP_005269067.1:p.Ile1398Val | |
| XM_005269011.3:c.4177A>G | XP_005269068.1:p.Ile1393Val | |
| XM_005269012.3:c.4102A>G | XP_005269069.1:p.Ile1368Val | |
| XM_005269013.3:c.4087A>G | XP_005269070.1:p.Ile1363Val | |
| XM_005269014.3:c.4048A>G | XP_005269071.1:p.Ile1350Val | |
| XM_006719493.3:c.4171A>G | XP_006719556.1:p.Ile1391Val | |
| XM_006719494.3:c.4099A>G | XP_006719557.1:p.Ile1367Val | |
| XM_011538556.3:c.4162A>G | XP_011536858.1:p.Ile1388Val | |
| XM_017019607.2:c.4177A>G | XP_016875096.1:p.Ile1393Val | |
| XM_017019608.2:c.4138A>G | XP_016875097.1:p.Ile1380Val | |
| XM_017019609.2:c.4027A>G | XP_016875098.1:p.Ile1343Val | |
| XM_017019610.2:c.4027A>G | XP_016875099.1:p.Ile1343Val | |
| XM_017019611.2:c.4009A>G | XP_016875100.1:p.Ile1337Val | |
| NM_001173463.2:c.4117A>G | NP_001166934.1:p.Ile1373Val | |
| NM_001173464.2:c.4228A>G MANE Select | NP_001166935.1:p.Ile1410Val | |
| NM_001173465.2:c.4069A>G | NP_001166936.1:p.Ile1357Val | |
| NM_017641.4:c.4189A>G | NP_060111.2:p.Ile1397Val | |
| NM_001378439.1:c.4231A>G | NP_001365368.1:p.Ile1411Val | |
| NM_001378440.1:c.4216A>G | NP_001365369.1:p.Ile1406Val | |
| NM_001378441.1:c.4192A>G | NP_001365370.1:p.Ile1398Val |