ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.39332236A>G , CM000674.2:g.39332236A>G | GRCh38 |
| NC_000012.11:g.39726038A>G , CM000674.1:g.39726038A>G | GRCh37 |
| NC_000012.10:g.38012305A>G | NCBI36 |
| NG_017067.1:g.116155T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361418.10:c.3029T>C MANE Select | ENSP00000354878.5:p.Ile1010Thr | |
| ENST00000636569.1:c.2963T>C | ENSP00000490369.1:p.Ile988Thr | |
| ENST00000361418.9:c.3029T>C | ENSP00000354878.5:p.Ile1010Thr | |
| ENST00000361961.7:c.2990T>C | ENSP00000354851.3:p.Ile997Thr | |
| ENST00000541463.6:c.2921T>C | ENSP00000438075.2:p.Ile974Thr | |
| ENST00000544797.6:c.2990T>C | ENSP00000445606.2:p.Ile997Thr | |
| ENST00000547108.5:c.802T>C | ||
| ENST00000551066.1:c.92T>C | ENSP00000447070.1:p.Ile31Thr | |
| ENST00000551264.5:c.173T>C | ENSP00000448792.1:p.Ile58Thr | |
| ENST00000552961.5:c.1072T>C | ||
| NM_001173463.1:c.2990T>C | NP_001166934.1:p.Ile997Thr | |
| NM_001173464.1:c.3029T>C | NP_001166935.1:p.Ile1010Thr | |
| NM_001173465.1:c.2921T>C | NP_001166936.1:p.Ile974Thr | |
| NM_017641.3:c.2990T>C | NP_060111.2:p.Ile997Thr | |
| XM_005269007.1:c.3029T>C | XP_005269064.1:p.Ile1010Thr | |
| XM_005269008.1:c.3029T>C | XP_005269065.1:p.Ile1010Thr | |
| XM_005269009.1:c.3029T>C | XP_005269066.1:p.Ile1010Thr | |
| XM_005269010.1:c.2990T>C | XP_005269067.1:p.Ile997Thr | |
| XM_005269011.1:c.3029T>C | XP_005269068.1:p.Ile1010Thr | |
| XM_005269012.1:c.3029T>C | XP_005269069.1:p.Ile1010Thr | |
| XM_005269013.1:c.3029T>C | XP_005269070.1:p.Ile1010Thr | |
| XM_005269014.1:c.3029T>C | XP_005269071.1:p.Ile1010Thr | |
| XM_006719493.1:c.2990T>C | XP_006719556.1:p.Ile997Thr | |
| XM_006719494.1:c.3029T>C | XP_006719557.1:p.Ile1010Thr | |
| XM_006719496.1:c.2990T>C | XP_006719559.1:p.Ile997Thr | |
| XM_011538556.1:c.2960T>C | XP_011536858.1:p.Ile987Thr | |
| XR_429108.1:n.3361T>C | ||
| XM_005269007.3:c.3029T>C | XP_005269064.1:p.Ile1010Thr | |
| XM_005269008.3:c.3029T>C | XP_005269065.1:p.Ile1010Thr | |
| XM_005269009.3:c.3029T>C | XP_005269066.1:p.Ile1010Thr | |
| XM_005269010.3:c.2990T>C | XP_005269067.1:p.Ile997Thr | |
| XM_005269011.3:c.3029T>C | XP_005269068.1:p.Ile1010Thr | |
| XM_005269012.3:c.3029T>C | XP_005269069.1:p.Ile1010Thr | |
| XM_005269013.3:c.3029T>C | XP_005269070.1:p.Ile1010Thr | |
| XM_005269014.3:c.3029T>C | XP_005269071.1:p.Ile1010Thr | |
| XM_006719493.3:c.2990T>C | XP_006719556.1:p.Ile997Thr | |
| XM_006719494.3:c.3029T>C | XP_006719557.1:p.Ile1010Thr | |
| XM_011538556.3:c.2960T>C | XP_011536858.1:p.Ile987Thr | |
| XM_017019607.2:c.2990T>C | XP_016875096.1:p.Ile997Thr | |
| XM_017019608.2:c.2990T>C | XP_016875097.1:p.Ile997Thr | |
| XM_017019609.2:c.2990T>C | XP_016875098.1:p.Ile997Thr | |
| XM_017019610.2:c.3029T>C | XP_016875099.1:p.Ile1010Thr | |
| XM_017019611.2:c.2990T>C | XP_016875100.1:p.Ile997Thr | |
| NM_001173463.2:c.2990T>C | NP_001166934.1:p.Ile997Thr | |
| NM_001173464.2:c.3029T>C MANE Select | NP_001166935.1:p.Ile1010Thr | |
| NM_001173465.2:c.2921T>C | NP_001166936.1:p.Ile974Thr | |
| NM_017641.4:c.2990T>C | NP_060111.2:p.Ile997Thr | |
| NM_001378439.1:c.3029T>C | NP_001365368.1:p.Ile1010Thr | |
| NM_001378440.1:c.3029T>C | NP_001365369.1:p.Ile1010Thr | |
| NM_001378441.1:c.2990T>C | NP_001365370.1:p.Ile997Thr |