Revel Score:
ENST00000546057
0.234
ENST00000328963 (MANE Select)
0.234
ENST00000535250
0.234
ENST00000541446
0.234
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121184501A>G , CM000674.2:g.121184501A>G | GRCh38 |
| NC_000012.11:g.121622304A>G , CM000674.1:g.121622304A>G | GRCh37 |
| NC_000012.10:g.120106687A>G | NCBI36 |
| NG_011471.2:g.56627A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.1487A>G MANE Select | ENSP00000330696.6:p.Glu496Gly | |
| ENST00000261826.10:c.*940A>G | ENSP00000261826.6:n.*940A>G | |
| ENST00000328963.9:c.1487A>G | ENSP00000330696.6:p.Glu496Gly | |
| ENST00000535250.5:c.1571A>G | ENSP00000442572.2:n.1571A>G | |
| ENST00000535600.2:c.1304A>G | ENSP00000442470.1:n.1304A>G | |
| ENST00000537312.5:c.*1258A>G | ENSP00000438586.1:n.*1258A>G | |
| ENST00000538011.5:c.1626A>G | ENSP00000439247.1:n.1626A>G | |
| ENST00000539606.5:c.1710A>G | ENSP00000445325.1:n.1710A>G | |
| ENST00000539695.5:n.1656A>G | ||
| ENST00000541022.5:c.1277A>G | ENSP00000441230.1:n.1277A>G | |
| ENST00000541564.5:c.1350A>G | ENSP00000443640.1:n.1350A>G | |
| ENST00000541716.5:c.1498A>G | ENSP00000437729.1:n.1498A>G | |
| NM_002562.5:c.1487A>G | NP_002553.3:p.Glu496Gly | |
| NR_033948.1:n.1853A>G | ||
| NR_033949.1:n.1769A>G | ||
| NR_033950.1:n.1730A>G | ||
| NR_033951.1:n.1714A>G | ||
| NR_033952.1:n.1641A>G | ||
| NR_033953.1:n.1554A>G | ||
| NR_033954.1:n.1533A>G | ||
| NR_033955.1:n.1493A>G | ||
| NR_033956.1:n.1420A>G | ||
| XM_011538418.1:c.1220A>G | XP_011536720.1:p.Glu407Gly | |
| XM_011538419.1:c.1175A>G | XP_011536721.1:p.Glu392Gly | |
| XM_011538420.1:c.620A>G | XP_011536722.1:p.Glu207Gly | |
| XR_945459.1:n.189+18997T>C | ||
| XR_945460.1:n.298+18997T>C | ||
| XM_011538419.3:c.1175A>G | XP_011536721.1:p.Glu392Gly | |
| XM_011538420.3:c.620A>G | XP_011536722.1:p.Glu207Gly | |
| XM_017019364.2:c.1127A>G | XP_016874853.1:p.Glu376Gly | |
| XM_017019365.2:c.1127A>G | XP_016874854.1:p.Glu376Gly | |
| XM_017019366.2:c.734A>G | XP_016874855.1:p.Glu245Gly | |
| XM_017019367.2:c.734A>G | XP_016874856.1:p.Glu245Gly | |
| XR_001749352.2:n.186+18997T>C | ||
| XR_001749353.2:n.303+18997T>C | ||
| XR_001749354.2:n.186+18997T>C | ||
| XR_945459.3:n.186+18997T>C | ||
| XR_945460.3:n.298+18997T>C | ||
| NM_002562.6:c.1487A>G MANE Select | NP_002553.3:p.Glu496Gly | |
| NR_033948.2:n.1805A>G | ||
| NR_033949.2:n.1721A>G | ||
| NR_033950.2:n.1682A>G | ||
| NR_033951.2:n.1666A>G | ||
| NR_033952.2:n.1593A>G | ||
| NR_033953.2:n.1497A>G | ||
| NR_033954.2:n.1485A>G | ||
| NR_033955.2:n.1445A>G | ||
| NR_033956.2:n.1372A>G |