Revel Score:
ENST00000528457
0.037
ENST00000257177 (MANE Select)
0.022
ENST00000371544
0.022
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00080656 (AFR)
Genomes Max Group AF
0.00083122 (AFR)
Exomes Max Group AF
0.0006225 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52431058C>G , CM000663.2:g.52431058C>G | GRCh38 |
| NC_000001.10:g.52896730C>G , CM000663.1:g.52896730C>G | GRCh37 |
| NC_000001.9:g.52669318C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257177.9:c.4666G>C MANE Select | ENSP00000257177.4:p.Val1556Leu | |
| ENST00000257177.8:c.4666G>C | ENSP00000257177.4:p.Val1556Leu | |
| ENST00000371544.7:c.4663G>C | ENSP00000360599.3:p.Val1555Leu | |
| ENST00000466440.1:n.3613G>C | ||
| ENST00000471623.1:c.24G>C | ||
| ENST00000494469.5:c.183G>C | ||
| ENST00000527941.5:c.55G>C | ENSP00000436810.1:p.Val19Leu | |
| ENST00000528457.5:c.170G>C | ||
| NM_001009881.2:c.4666G>C | NP_001009881.1:p.Val1556Leu | |
| NM_015269.2:c.4663G>C | NP_056084.1:p.Val1555Leu | |
| XM_005270676.2:c.4666G>C | XP_005270733.1:p.Val1556Leu | |
| XM_005270678.2:c.4663G>C | XP_005270735.1:p.Val1555Leu | |
| XM_005270679.2:c.4651G>C | XP_005270736.1:p.Val1551Leu | |
| XM_005270680.2:c.4651G>C | XP_005270737.1:p.Val1551Leu | |
| XM_005270681.2:c.4552G>C | XP_005270738.1:p.Val1518Leu | |
| XM_005270682.2:c.4333G>C | XP_005270739.1:p.Val1445Leu | |
| XM_005270683.2:c.4300G>C | XP_005270740.1:p.Val1434Leu | |
| XM_006710498.2:c.4666G>C | XP_006710561.1:p.Val1556Leu | |
| XM_006710499.2:c.4666G>C | XP_006710562.1:p.Val1556Leu | |
| XM_006710500.1:c.4453G>C | XP_006710563.1:p.Val1485Leu | |
| XM_011541097.1:c.4666G>C | XP_011539399.1:p.Val1556Leu | |
| XM_011541098.1:c.4585G>C | XP_011539400.1:p.Val1529Leu | |
| XM_011541099.1:c.4372G>C | XP_011539401.1:p.Val1458Leu | |
| XM_005270680.3:c.4651G>C | XP_005270737.1:p.Val1551Leu | |
| XM_006710499.3:c.4666G>C | XP_006710562.1:p.Val1556Leu | |
| XM_017000803.1:c.4570G>C | XP_016856292.1:p.Val1524Leu | |
| XM_017000804.2:c.4570G>C | XP_016856293.1:p.Val1524Leu | |
| XM_017000805.2:c.4537G>C | XP_016856294.1:p.Val1513Leu | |
| XM_017000806.1:c.4438G>C | XP_016856295.1:p.Val1480Leu | |
| XM_017000807.2:c.4438G>C | XP_016856296.1:p.Val1480Leu | |
| XM_017000808.1:c.4318G>C | XP_016856297.1:p.Val1440Leu | |
| XM_017000809.2:c.4333G>C | XP_016856298.1:p.Val1445Leu | |
| XM_017000810.2:c.4318G>C | XP_016856299.1:p.Val1440Leu | |
| XM_017000811.2:c.4300G>C | XP_016856300.1:p.Val1434Leu | |
| XM_017000812.2:c.4297G>C | XP_016856301.1:p.Val1433Leu | |
| XM_017000813.2:c.4285G>C | XP_016856302.1:p.Val1429Leu | |
| XM_017000814.2:c.3967G>C | XP_016856303.1:p.Val1323Leu | |
| XR_001737073.1:n.5122G>C | ||
| XR_001737074.2:n.4356G>C | ||
| XR_002959846.1:n.6399G>C | ||
| NM_001009881.3:c.4666G>C MANE Select | NP_001009881.1:p.Val1556Leu |