Revel Score:
ENST00000361961
0.286
ENST00000395670
0.286
ENST00000341813
0.286
ENST00000545778
0.286
ENST00000551264
0.286
ENST00000544797
0.286
ENST00000361418 (MANE Select)
0.286
ENST00000541463
0.286
ENST00000552961
0.322
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001645 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001627 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.39301520C>T , CM000674.2:g.39301520C>T | GRCh38 |
| NC_000012.11:g.39695322C>T , CM000674.1:g.39695322C>T | GRCh37 |
| NC_000012.10:g.37981589C>T | NCBI36 |
| NG_017067.1:g.146871G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361418.10:c.4891G>A MANE Select | ENSP00000354878.5:p.Ala1631Thr | |
| ENST00000636569.1:c.4828G>A | ENSP00000490369.1:p.Ala1610Thr | |
| ENST00000361418.9:c.4891G>A | ENSP00000354878.5:p.Ala1631Thr | |
| ENST00000361961.7:c.4852G>A | ENSP00000354851.3:p.Ala1618Thr | |
| ENST00000541463.6:c.4732G>A | ENSP00000438075.2:p.Ala1578Thr | |
| ENST00000544797.6:c.4780G>A | ENSP00000445606.2:p.Ala1594Thr | |
| ENST00000547733.1:n.2205G>A | ||
| ENST00000551264.5:c.1834G>A | ENSP00000448792.1:p.Ala612Thr | |
| ENST00000552961.5:c.2793G>A | ||
| NM_001173463.1:c.4780G>A | NP_001166934.1:p.Ala1594Thr | |
| NM_001173464.1:c.4891G>A | NP_001166935.1:p.Ala1631Thr | |
| NM_001173465.1:c.4732G>A | NP_001166936.1:p.Ala1578Thr | |
| NM_017641.3:c.4852G>A | NP_060111.2:p.Ala1618Thr | |
| XM_005269007.1:c.4894G>A | XP_005269064.1:p.Ala1632Thr | |
| XM_005269008.1:c.4879G>A | XP_005269065.1:p.Ala1627Thr | |
| XM_005269009.1:c.4873G>A | XP_005269066.1:p.Ala1625Thr | |
| XM_005269010.1:c.4855G>A | XP_005269067.1:p.Ala1619Thr | |
| XM_005269011.1:c.4840G>A | XP_005269068.1:p.Ala1614Thr | |
| XM_005269012.1:c.4765G>A | XP_005269069.1:p.Ala1589Thr | |
| XM_005269013.1:c.4750G>A | XP_005269070.1:p.Ala1584Thr | |
| XM_005269014.1:c.4711G>A | XP_005269071.1:p.Ala1571Thr | |
| XM_006719493.1:c.4834G>A | XP_006719556.1:p.Ala1612Thr | |
| XM_006719494.1:c.4762G>A | XP_006719557.1:p.Ala1588Thr | |
| XM_006719496.1:c.4819G>A | XP_006719559.1:p.Ala1607Thr | |
| XM_011538556.1:c.4825G>A | XP_011536858.1:p.Ala1609Thr | |
| XM_005269007.3:c.4894G>A | XP_005269064.1:p.Ala1632Thr | |
| XM_005269008.3:c.4879G>A | XP_005269065.1:p.Ala1627Thr | |
| XM_005269009.3:c.4873G>A | XP_005269066.1:p.Ala1625Thr | |
| XM_005269010.3:c.4855G>A | XP_005269067.1:p.Ala1619Thr | |
| XM_005269011.3:c.4840G>A | XP_005269068.1:p.Ala1614Thr | |
| XM_005269012.3:c.4765G>A | XP_005269069.1:p.Ala1589Thr | |
| XM_005269013.3:c.4750G>A | XP_005269070.1:p.Ala1584Thr | |
| XM_005269014.3:c.4711G>A | XP_005269071.1:p.Ala1571Thr | |
| XM_006719493.3:c.4834G>A | XP_006719556.1:p.Ala1612Thr | |
| XM_006719494.3:c.4762G>A | XP_006719557.1:p.Ala1588Thr | |
| XM_011538556.3:c.4825G>A | XP_011536858.1:p.Ala1609Thr | |
| XM_017019607.2:c.4840G>A | XP_016875096.1:p.Ala1614Thr | |
| XM_017019608.2:c.4801G>A | XP_016875097.1:p.Ala1601Thr | |
| XM_017019609.2:c.4690G>A | XP_016875098.1:p.Ala1564Thr | |
| XM_017019610.2:c.4690G>A | XP_016875099.1:p.Ala1564Thr | |
| XM_017019611.2:c.4672G>A | XP_016875100.1:p.Ala1558Thr | |
| NM_001173463.2:c.4780G>A | NP_001166934.1:p.Ala1594Thr | |
| NM_001173464.2:c.4891G>A MANE Select | NP_001166935.1:p.Ala1631Thr | |
| NM_001173465.2:c.4732G>A | NP_001166936.1:p.Ala1578Thr | |
| NM_017641.4:c.4852G>A | NP_060111.2:p.Ala1618Thr | |
| NM_001378439.1:c.4894G>A | NP_001365368.1:p.Ala1632Thr | |
| NM_001378440.1:c.4879G>A | NP_001365369.1:p.Ala1627Thr | |
| NM_001378441.1:c.4855G>A | NP_001365370.1:p.Ala1619Thr |