Revel Score:
ENST00000356926
0.025
ENST00000345016
0.025
ENST00000355272
0.025
ENST00000343722
0.025
ENST00000350812
0.025
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16430867 (NFE)
Genomes Max Group AF
0.15465866 (NFE)
Exomes Max Group AF
0.16476573 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2109158T>C , CM000681.2:g.2109158T>C | GRCh38 |
| NC_000019.9:g.2109157T>C , CM000681.1:g.2109157T>C | GRCh37 |
| NC_000019.8:g.2060157T>C | NCBI36 |
| NG_052886.2:g.60311A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699940.1:n.1282A>G | ||
| ENST00000699941.1:n.1552A>G | ||
| ENST00000699942.1:n.1492A>G | ||
| ENST00000699943.1:n.1588A>G | ||
| ENST00000700387.1:c.3364A>G | ENSP00000514969.1:p.Ile1122Val | |
| ENST00000586370.6:c.411-33A>G | ENSP00000468449.2:n.411-33A>G | |
| ENST00000643116.3:c.3400A>G MANE Select | ENSP00000495274.2:p.Ile1134Val | |
| ENST00000644728.1:c.2590A>G | ENSP00000494972.1:p.Ile864Val | |
| ENST00000345016.9:c.3214A>G | ENSP00000344055.4:p.Ile1072Val | |
| ENST00000355272.10:c.3400A>G | ENSP00000347416.5:p.Ile1134Val | |
| ENST00000585652.5:n.3007A>G | ||
| ENST00000586370.5:c.352-33A>G | ||
| ENST00000589223.5:n.1925A>G | ||
| ENST00000589369.2:c.324A>G | ||
| ENST00000591650.1:n.637A>G | ||
| NM_001261826.1:c.3400A>G | NP_001248755.1:p.Ile1134Val | |
| NM_003938.6:c.3214A>G | NP_003929.4:p.Ile1072Val | |
| XM_006722932.1:c.3364A>G | XP_006722995.1:p.Ile1122Val | |
| NM_001261826.3:c.3400A>G MANE Select | NP_001248755.1:p.Ile1134Val | |
| NM_003938.7:c.3214A>G | NP_003929.4:p.Ile1072Val | |
| XM_006722932.2:c.3364A>G | XP_006722995.1:p.Ile1122Val | |
| XM_017027422.1:c.2716A>G | XP_016882911.1:p.Ile906Val | |
| NM_001374799.1:c.3364A>G | NP_001361728.1:p.Ile1122Val | |
| NM_003938.8:c.3214A>G | NP_003929.4:p.Ile1072Val |