Revel Score:
ENST00000535193
0.040
ENST00000543771
0.040
ENST00000381309 (MANE Select)
0.040
ENST00000381306
0.040
ENST00000442236
0.040
ENST00000536108
0.040
ENST00000428870
0.040
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008093 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00008214 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6986427A>G , CM000671.2:g.6986427A>G | GRCh38 |
| NC_000009.11:g.6986427A>G , CM000671.1:g.6986427A>G | GRCh37 |
| NC_000009.10:g.6976427A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536108.6:c.1504A>G | ENSP00000440656.3:p.Ile502Val | |
| ENST00000381309.8:c.1438A>G MANE Select | ENSP00000370710.3:p.Ile480Val | |
| ENST00000381306.7:c.1438A>G | ENSP00000370707.3:p.Ile480Val | |
| ENST00000381309.7:c.1438A>G | ENSP00000370710.3:p.Ile480Val | |
| ENST00000428870.6:c.499A>G | ENSP00000405739.2:p.Ile167Val | |
| ENST00000438023.5:c.*1240A>G | ENSP00000404756.1:n.*1240A>G | |
| ENST00000494570.1:n.208A>G | ||
| ENST00000535193.3:c.1504A>G | ENSP00000442382.1:p.Ile502Val | |
| ENST00000536108.5:c.1438A>G | ENSP00000440656.2:p.Ile480Val | |
| ENST00000543771.5:c.1438A>G | ENSP00000445427.1:p.Ile480Val | |
| NM_001146695.1:c.1438A>G | NP_001140167.1:p.Ile480Val | |
| NM_001146696.1:c.1504A>G | NP_001140168.1:p.Ile502Val | |
| NM_001304339.1:c.1438A>G | NP_001291268.1:p.Ile480Val | |
| NM_001304340.1:c.895A>G | NP_001291269.1:p.Ile299Val | |
| NM_015061.3:c.1438A>G | NP_055876.2:p.Ile480Val | |
| NR_130707.1:n.2961A>G | ||
| XM_006716741.1:c.1438A>G | XP_006716804.1:p.Ile480Val | |
| XM_011517808.1:c.1438A>G | XP_011516110.1:p.Ile480Val | |
| XM_011517809.1:c.1438A>G | XP_011516111.1:p.Ile480Val | |
| XM_011517810.1:c.895A>G | XP_011516112.1:p.Ile299Val | |
| XM_011517811.1:c.895A>G | XP_011516113.1:p.Ile299Val | |
| XM_011517812.1:c.844A>G | XP_011516114.1:p.Ile282Val | |
| XM_011517814.1:c.709A>G | XP_011516116.1:p.Ile237Val | |
| XM_011517815.1:c.1438A>G | XP_011516117.1:p.Ile480Val | |
| XM_011517816.1:c.499A>G | XP_011516118.1:p.Ile167Val | |
| XR_929221.1:n.1455A>G | ||
| XR_929222.1:n.1455A>G | ||
| XR_929223.1:n.1455A>G | ||
| NM_001146695.2:c.1438A>G | NP_001140167.1:p.Ile480Val | |
| NM_001304339.2:c.1438A>G | NP_001291268.1:p.Ile480Val | |
| NM_001304340.2:c.895A>G | NP_001291269.1:p.Ile299Val | |
| NM_001353997.1:c.1438A>G | NP_001340926.1:p.Ile480Val | |
| NM_001353998.1:c.1438A>G | NP_001340927.1:p.Ile480Val | |
| NM_001353999.1:c.127A>G | NP_001340928.1:p.Ile43Val | |
| NM_001354000.1:c.127A>G | NP_001340929.1:p.Ile43Val | |
| NM_001354001.1:c.127A>G | NP_001340930.1:p.Ile43Val | |
| NM_015061.4:c.1438A>G | NP_055876.2:p.Ile480Val | |
| NR_130707.2:n.3252A>G | ||
| NR_148677.1:n.2309A>G | ||
| NR_148678.1:n.2309A>G | ||
| NR_148679.1:n.3233A>G | ||
| NR_148680.1:n.3233A>G | ||
| XM_011517811.3:c.895A>G | XP_011516113.1:p.Ile299Val | |
| XM_017014498.2:c.1438A>G | XP_016869987.1:p.Ile480Val | |
| XM_017014499.2:c.1018A>G | XP_016869988.1:p.Ile340Val | |
| XM_017014501.2:c.844A>G | XP_016869990.1:p.Ile282Val | |
| XM_017014502.2:c.1438A>G | XP_016869991.1:p.Ile480Val | |
| XM_017014504.2:c.1438A>G | XP_016869993.1:p.Ile480Val | |
| XM_024447458.1:c.1018A>G | XP_024303226.1:p.Ile340Val | |
| XM_024447459.1:c.127A>G | XP_024303227.1:p.Ile43Val | |
| XR_001746252.2:n.2015A>G | ||
| XR_001746255.2:n.2015A>G | ||
| NM_001146695.4:c.1438A>G | NP_001140167.1:p.Ile480Val | |
| NM_001146696.2:c.1504A>G | NP_001140168.1:p.Ile502Val | |
| NM_001304339.4:c.1438A>G | NP_001291268.1:p.Ile480Val | |
| NM_001304340.4:c.895A>G | NP_001291269.1:p.Ile299Val | |
| NM_001353997.3:c.1438A>G | NP_001340926.1:p.Ile480Val | |
| NM_001353998.3:c.1438A>G | NP_001340927.1:p.Ile480Val | |
| NM_001353999.3:c.127A>G | NP_001340928.1:p.Ile43Val | |
| NM_001354000.3:c.127A>G | NP_001340929.1:p.Ile43Val | |
| NM_001354001.3:c.127A>G | NP_001340930.1:p.Ile43Val | |
| NM_015061.6:c.1438A>G MANE Select | NP_055876.2:p.Ile480Val | |
| NR_130707.4:n.2629A>G | ||
| NR_148677.3:n.1686A>G | ||
| NR_148678.3:n.1686A>G | ||
| NR_148679.3:n.2610A>G | ||
| NR_148680.3:n.2610A>G |