Revel Score:
ENST00000261584 (MANE Select)
0.064
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001747 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603629T>C , CM000678.2:g.23603629T>C | GRCh38 |
| NC_000016.9:g.23614950T>C , CM000678.1:g.23614950T>C | GRCh37 |
| NC_000016.8:g.23522451T>C | NCBI36 |
| NG_007406.1:g.42729A>G , LRG_308:g.42729A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3397A>G | ENSP00000460666.3:p.Ile1133Val | |
| ENST00000565038.2:c.*876A>G | ENSP00000459882.2:n.*876A>G | |
| ENST00000566069.6:c.*26A>G | ENSP00000459237.2:n.*26A>G | |
| ENST00000697377.2:c.3235A>G | ENSP00000513286.2:p.Ile1079Val | |
| ENST00000697379.2:c.3397A>G | ENSP00000513287.2:p.Ile1133Val | |
| ENST00000561514.2:c.2506A>G | ENSP00000460666.2:p.Ile836Val | |
| ENST00000697374.1:c.2506A>G | ENSP00000513284.1:p.Ile836Val | |
| ENST00000697375.1:n.4738A>G | ||
| ENST00000697376.1:c.*26A>G | ENSP00000513285.1:n.*26A>G | |
| ENST00000697377.1:c.2344A>G | ENSP00000513286.1:p.Ile782Val | |
| ENST00000697378.1:n.3911A>G | ||
| ENST00000697379.1:c.2506A>G | ENSP00000513287.1:p.Ile836Val | |
| ENST00000697380.1:n.2595A>G | ||
| ENST00000697381.1:n.2086A>G | ||
| ENST00000697382.1:c.*168A>G | ENSP00000513288.1:n.*168A>G | |
| ENST00000697383.1:c.925A>G | ENSP00000513289.1:p.Ile309Val | |
| ENST00000261584.9:c.3391A>G MANE Select | ENSP00000261584.4:p.Ile1131Val | |
| ENST00000261584.8:c.3391A>G | ENSP00000261584.4:p.Ile1131Val | |
| ENST00000566069.5:c.157A>G | ||
| ENST00000568219.5:c.2506A>G | ENSP00000454703.2:p.Ile836Val | |
| NM_024675.3:c.3391A>G , LRG_308t1:c.3391A>G | NP_078951.2:p.Ile1131Val | |
| XM_011545946.1:c.3397A>G | XP_011544248.1:p.Ile1133Val | |
| XM_011545947.1:c.*26A>G | XP_011544249.1:n.*26A>G | |
| XM_011545948.1:c.2506A>G | XP_011544250.1:p.Ile836Val | |
| XR_950851.1:n.4099A>G | ||
| XM_011545946.2:c.3397A>G | XP_011544248.1:p.Ile1133Val | |
| XM_011545947.2:c.*26A>G | XP_011544249.1:n.*26A>G | |
| XM_011545948.2:c.2506A>G | XP_011544250.1:p.Ile836Val | |
| XM_017023671.1:c.3160A>G | XP_016879160.1:p.Ile1054Val | |
| XM_017023672.2:c.3154A>G | XP_016879161.1:p.Ile1052Val | |
| XM_017023673.2:c.*26A>G | XP_016879162.1:n.*26A>G | |
| NM_024675.4:c.3391A>G MANE Select | NP_078951.2:p.Ile1131Val |