Revel Score:
ENST00000461497
0.131
ENST00000282903 (MANE Select)
0.131
ENST00000360060
0.131
ENST00000494950
0.131
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00127256 (SAS)
Genomes Max Group AF
0.00127575 (SAS)
Exomes Max Group AF
0.00126012 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.146073298T>C , CM000665.2:g.146073298T>C | GRCh38 |
| NC_000003.11:g.145791085T>C , CM000665.1:g.145791085T>C | GRCh37 |
| NC_000003.10:g.147273775T>C | NCBI36 |
| NG_009251.1:g.93198A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469350.6:c.1585A>G | ENSP00000419963.2:p.Ile529Val | |
| ENST00000480704.2:c.*1496A>G | ENSP00000419880.1:n.*1496A>G | |
| ENST00000703517.1:n.579+29457A>G | ||
| ENST00000703518.1:c.1732A>G | ENSP00000515350.1:p.Ile578Val | |
| ENST00000703519.1:n.1749A>G | ||
| ENST00000703520.1:c.*146A>G | ENSP00000515351.1:n.*146A>G | |
| ENST00000703521.1:c.*1084A>G | ENSP00000515352.1:n.*1084A>G | |
| ENST00000703522.1:c.1732A>G | ENSP00000515353.1:p.Ile578Val | |
| ENST00000703523.1:c.1669A>G | ENSP00000515354.1:p.Ile557Val | |
| ENST00000703524.1:n.1552A>G | ||
| ENST00000703525.1:n.4084A>G | ||
| ENST00000703526.1:n.1100A>G | ||
| ENST00000703527.1:c.1732A>G | ENSP00000515355.1:p.Ile578Val | |
| ENST00000703528.1:c.1440-3204A>G | ENSP00000515356.1:n.1440-3204A>G | |
| ENST00000703529.1:n.1927A>G | ||
| ENST00000706626.1:c.1555A>G | ENSP00000516472.1:p.Ile519Val | |
| ENST00000706631.1:n.2177A>G | ||
| ENST00000706632.1:n.596A>G | ||
| ENST00000706633.1:n.946A>G | ||
| ENST00000706634.1:n.2893A>G | ||
| ENST00000706635.1:c.1564A>G | ENSP00000516475.1:p.Ile522Val | |
| ENST00000706636.1:c.*1021A>G | ENSP00000516476.1:n.*1021A>G | |
| ENST00000282903.10:c.1732A>G MANE Select | ENSP00000282903.5:p.Ile578Val | |
| ENST00000282903.9:c.1732A>G | ENSP00000282903.5:p.Ile578Val | |
| ENST00000360060.7:c.1669A>G | ENSP00000353170.3:p.Ile557Val | |
| ENST00000461497.5:c.712A>G | ENSP00000419354.1:p.Ile238Val | |
| ENST00000475505.1:n.360A>G | ||
| ENST00000494950.5:c.1567A>G | ENSP00000420094.1:p.Ile523Val | |
| NM_000935.2:c.1669A>G | NP_000926.2:p.Ile557Val | |
| NM_182943.2:c.1732A>G | NP_891988.1:p.Ile578Val | |
| XM_005247535.3:c.1456A>G | XP_005247592.1:p.Ile486Val | |
| XM_005247535.4:c.1456A>G | XP_005247592.1:p.Ile486Val | |
| XM_017006625.2:c.1456A>G | XP_016862114.1:p.Ile486Val | |
| XM_024453599.1:c.1393A>G | XP_024309367.1:p.Ile465Val | |
| XR_001740176.2:n.2000A>G | ||
| NM_182943.3:c.1732A>G MANE Select | NP_891988.1:p.Ile578Val | |
| NM_000935.3:c.1669A>G | NP_000926.2:p.Ile557Val |