Revel Score:
ENST00000362061 (MANE Select)
0.046
ENST00000367338
0.046
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033291 (AFR)
Genomes Max Group AF
0.00045811 (AFR)
Exomes Max Group AF
0.0000975 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201039922C>G , CM000663.2:g.201039922C>G | GRCh38 |
| NC_000001.10:g.201009050C>G , CM000663.1:g.201009050C>G | GRCh37 |
| NC_000001.9:g.199275673C>G | NCBI36 |
| NG_009816.1:g.77645G>C | |
| NG_009816.2:g.77645G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.5531G>C MANE Select | ENSP00000355192.3:p.Ser1844Thr | |
| ENST00000679417.1:c.*4694G>C | ENSP00000506706.1:n.*4694G>C | |
| ENST00000680059.1:c.*3049G>C | ENSP00000504944.1:n.*3049G>C | |
| ENST00000681078.1:c.*1306G>C | ENSP00000506645.1:n.*1306G>C | |
| ENST00000681190.1:c.*1713G>C | ENSP00000506428.1:n.*1713G>C | |
| ENST00000681874.1:c.5471G>C | ENSP00000505162.1:p.Ser1824Thr | |
| ENST00000362061.3:c.5531G>C | ENSP00000355192.3:p.Ser1844Thr | |
| ENST00000367338.7:c.5474G>C | ENSP00000356307.3:p.Ser1825Thr | |
| NM_000069.2:c.5531G>C | NP_000060.2:p.Ser1844Thr | |
| XM_005245478.2:c.5474G>C | XP_005245535.1:p.Ser1825Thr | |
| XR_241170.3:n.1465-1933C>G | ||
| XR_922405.1:n.2003-1933C>G | ||
| XR_922406.1:n.2281-1933C>G | ||
| XR_922407.1:n.2191-1933C>G | ||
| XR_922408.1:n.1369-1933C>G | ||
| XR_922409.1:n.1984-1933C>G | ||
| XR_922410.1:n.1391-1933C>G | ||
| XR_922411.1:n.1983-1933C>G | ||
| XR_922412.1:n.2197-1933C>G | ||
| XR_922413.1:n.2093-1933C>G | ||
| XR_922414.1:n.1300-1933C>G | ||
| XR_922415.1:n.1869-1933C>G | ||
| XR_922416.1:n.1309-1933C>G | ||
| XR_922417.1:n.1887-1933C>G | ||
| XR_922418.1:n.1821-1933C>G | ||
| XR_922419.1:n.1215-1933C>G | ||
| XR_922420.1:n.1687-1933C>G | ||
| XM_005245478.3:c.5474G>C | XP_005245535.1:p.Ser1825Thr | |
| XR_001738364.1:n.1652-1933C>G | ||
| XR_001738365.1:n.1562-1933C>G | ||
| XR_001738366.1:n.1355-1933C>G | ||
| XR_001738367.1:n.1568-1933C>G | ||
| XR_001738368.1:n.1464-1933C>G | ||
| XR_001738369.1:n.1240-1933C>G | ||
| XR_001738370.1:n.1192-1933C>G | ||
| XR_001738371.1:n.586-1933C>G | ||
| XR_001738372.1:n.1058-1933C>G | ||
| XR_922405.3:n.2113-1933C>G | ||
| XR_922407.3:n.2301-1933C>G | ||
| XR_922408.2:n.1374-1933C>G | ||
| XR_922410.2:n.1383-1933C>G | ||
| XR_922414.2:n.1292-1933C>G | ||
| XR_922416.2:n.1301-1933C>G | ||
| XR_922417.3:n.1997-1933C>G | ||
| NM_000069.3:c.5531G>C MANE Select | NP_000060.2:p.Ser1844Thr |