Revel Score:
ENST00000546057
0.220
ENST00000328963 (MANE Select)
0.220
ENST00000535250
0.220
ENST00000541446
0.220
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16715299 (NFE)
Genomes Max Group AF
0.16475075 (NFE)
Exomes Max Group AF
0.16716159 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121184393A>G , CM000674.2:g.121184393A>G | GRCh38 |
| NC_000012.11:g.121622196A>G , CM000674.1:g.121622196A>G | GRCh37 |
| NC_000012.10:g.120106579A>G | NCBI36 |
| NG_011471.2:g.56519A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.1379A>G MANE Select | ENSP00000330696.6:p.Gln460Arg | |
| ENST00000261826.10:c.*832A>G | ENSP00000261826.6:n.*832A>G | |
| ENST00000328963.9:c.1379A>G | ENSP00000330696.6:p.Gln460Arg | |
| ENST00000535250.5:c.1463A>G | ENSP00000442572.2:n.1463A>G | |
| ENST00000535600.2:c.1196A>G | ENSP00000442470.1:n.1196A>G | |
| ENST00000537312.5:c.*1150A>G | ENSP00000438586.1:n.*1150A>G | |
| ENST00000538011.5:c.1518A>G | ENSP00000439247.1:n.1518A>G | |
| ENST00000539606.5:c.1602A>G | ENSP00000445325.1:n.1602A>G | |
| ENST00000539695.5:n.1548A>G | ||
| ENST00000541022.5:c.1169A>G | ENSP00000441230.1:n.1169A>G | |
| ENST00000541564.5:c.1242A>G | ENSP00000443640.1:n.1242A>G | |
| ENST00000541716.5:c.1390A>G | ENSP00000437729.1:n.1390A>G | |
| NM_002562.5:c.1379A>G | NP_002553.3:p.Gln460Arg | |
| NR_033948.1:n.1745A>G | ||
| NR_033949.1:n.1661A>G | ||
| NR_033950.1:n.1622A>G | ||
| NR_033951.1:n.1606A>G | ||
| NR_033952.1:n.1533A>G | ||
| NR_033953.1:n.1446A>G | ||
| NR_033954.1:n.1425A>G | ||
| NR_033955.1:n.1385A>G | ||
| NR_033956.1:n.1312A>G | ||
| XM_011538418.1:c.1112A>G | XP_011536720.1:p.Gln371Arg | |
| XM_011538419.1:c.1067A>G | XP_011536721.1:p.Gln356Arg | |
| XM_011538420.1:c.512A>G | XP_011536722.1:p.Gln171Arg | |
| XR_945459.1:n.189+19105T>C | ||
| XR_945460.1:n.298+19105T>C | ||
| XM_011538419.3:c.1067A>G | XP_011536721.1:p.Gln356Arg | |
| XM_011538420.3:c.512A>G | XP_011536722.1:p.Gln171Arg | |
| XM_017019364.2:c.1019A>G | XP_016874853.1:p.Gln340Arg | |
| XM_017019365.2:c.1019A>G | XP_016874854.1:p.Gln340Arg | |
| XM_017019366.2:c.626A>G | XP_016874855.1:p.Gln209Arg | |
| XM_017019367.2:c.626A>G | XP_016874856.1:p.Gln209Arg | |
| XR_001749352.2:n.186+19105T>C | ||
| XR_001749353.2:n.303+19105T>C | ||
| XR_001749354.2:n.186+19105T>C | ||
| XR_945459.3:n.186+19105T>C | ||
| XR_945460.3:n.298+19105T>C | ||
| NM_002562.6:c.1379A>G MANE Select | NP_002553.3:p.Gln460Arg | |
| NR_033948.2:n.1697A>G | ||
| NR_033949.2:n.1613A>G | ||
| NR_033950.2:n.1574A>G | ||
| NR_033951.2:n.1558A>G | ||
| NR_033952.2:n.1485A>G | ||
| NR_033953.2:n.1389A>G | ||
| NR_033954.2:n.1377A>G | ||
| NR_033955.2:n.1337A>G | ||
| NR_033956.2:n.1264A>G |