Revel Score:
ENST00000292538
0.213
ENST00000547394
0.213
ENST00000360264
0.213
ENST00000393824
0.213
ENST00000425244
0.213
ENST00000437600
0.213
ENST00000292535 (MANE Select)
0.213
ENST00000549414
0.213
ENST00000550008
0.213
ENST00000546411
0.213
ENST00000556210
0.213
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.102070411G>C , CM000669.2:g.102070411G>C | GRCh38 |
| NC_000007.13:g.101713691G>C , CM000669.1:g.101713691G>C | GRCh37 |
| NC_000007.12:g.101500411G>C | NCBI36 |
| NG_029476.2:g.259508G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292535.12:c.262G>C MANE Select | ENSP00000292535.7:p.Val88Leu | |
| ENST00000292538.9:c.295G>C | ENSP00000292538.4:p.Val99Leu | |
| ENST00000437600.9:c.295G>C | ENSP00000414091.5:p.Val99Leu | |
| ENST00000546411.7:c.262G>C | ENSP00000450125.3:p.Val88Leu | |
| ENST00000622516.6:c.295G>C MANE Plus Clinical | ENSP00000484760.2:p.Val99Leu | |
| ENST00000645010.1:c.295G>C | ENSP00000496653.1:p.Val99Leu | |
| ENST00000646649.1:c.295G>C | ENSP00000494610.1:p.Val99Leu | |
| ENST00000292535.11:c.262G>C | ENSP00000292535.7:p.Val88Leu | |
| ENST00000292538.8:c.295G>C | ENSP00000292538.4:p.Val99Leu | |
| ENST00000360264.7:c.295G>C | ENSP00000353401.3:p.Val99Leu | |
| ENST00000393824.7:c.184G>C | ENSP00000377410.3:p.Val62Leu | |
| ENST00000425244.6:c.295G>C | ENSP00000409745.2:p.Val99Leu | |
| ENST00000437600.8:c.295G>C | ENSP00000414091.4:p.Val99Leu | |
| ENST00000497815.5:n.366G>C | ||
| ENST00000546411.6:c.262G>C | ENSP00000450125.2:p.Val88Leu | |
| ENST00000547394.6:c.247G>C | ENSP00000449371.2:p.Val83Leu | |
| ENST00000549414.6:c.262G>C | ENSP00000446630.2:p.Val88Leu | |
| ENST00000550008.6:c.262G>C | ENSP00000447373.2:p.Val88Leu | |
| ENST00000556210.1:c.262G>C | ENSP00000451558.1:p.Val88Leu | |
| ENST00000558469.5:n.291G>C | ||
| ENST00000558836.5:n.401G>C | ||
| ENST00000560541.5:n.567G>C | ||
| ENST00000606749.1:n.333G>C | ||
| ENST00000622516.4:c.295G>C | ENSP00000484760.1:p.Val99Leu | |
| NM_001202543.1:c.295G>C | NP_001189472.1:p.Val99Leu | |
| NM_001202544.2:c.247G>C | NP_001189473.1:p.Val83Leu | |
| NM_001202545.2:c.295G>C | NP_001189474.1:p.Val99Leu | |
| NM_001202546.2:c.184G>C | NP_001189475.1:p.Val62Leu | |
| NM_001913.4:c.295G>C | NP_001904.2:p.Val99Leu | |
| NM_181500.3:c.295G>C | NP_852477.1:p.Val99Leu | |
| NM_181552.3:c.262G>C | NP_853530.2:p.Val88Leu | |
| XM_005250150.1:c.562G>C | XP_005250207.1:p.Val188Leu | |
| XM_005250151.1:c.562G>C | XP_005250208.1:p.Val188Leu | |
| XM_005250154.3:c.562G>C | XP_005250211.1:p.Val188Leu | |
| XM_006715854.1:c.562G>C | XP_006715917.1:p.Val188Leu | |
| XM_006715855.1:c.562G>C | XP_006715918.1:p.Val188Leu | |
| XM_006715856.2:c.295G>C | XP_006715919.1:p.Val99Leu | |
| XM_011515823.1:c.562G>C | XP_011514125.1:p.Val188Leu | |
| XM_011515824.1:c.562G>C | XP_011514126.1:p.Val188Leu | |
| XM_011515825.1:c.295G>C | XP_011514127.1:p.Val99Leu | |
| XM_005250150.3:c.562G>C | XP_005250207.1:p.Val188Leu | |
| XM_006715854.2:c.562G>C | XP_006715917.1:p.Val188Leu | |
| XM_011515825.2:c.295G>C | XP_011514127.1:p.Val99Leu | |
| XM_017011760.2:c.295G>C | XP_016867249.1:p.Val99Leu | |
| XM_024446668.1:c.562G>C | XP_024302436.1:p.Val188Leu | |
| NM_181552.4:c.262G>C MANE Select | NP_853530.2:p.Val88Leu | |
| NM_001202543.2:c.295G>C | NP_001189472.1:p.Val99Leu | |
| NM_001202544.3:c.247G>C | NP_001189473.1:p.Val83Leu | |
| NM_001202545.3:c.295G>C | NP_001189474.1:p.Val99Leu | |
| NM_001202546.3:c.184G>C | NP_001189475.1:p.Val62Leu | |
| NM_001913.5:c.295G>C MANE Plus Clinical | NP_001904.2:p.Val99Leu | |
| NM_181500.4:c.295G>C | NP_852477.1:p.Val99Leu |