Revel Score:
ENST00000418703
0.822
ENST00000261740 (MANE Select)
0.822
ENST00000392719
0.822
ENST00000346520
0.822
ENST00000544971
0.822
ENST00000537083
0.822
ENST00000541794
0.822
ENST00000536838
0.822
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004346 (EAS)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00004907 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109794355C>T , CM000674.2:g.109794355C>T | GRCh38 |
| NC_000012.11:g.110232160C>T , CM000674.1:g.110232160C>T | GRCh37 |
| NC_000012.10:g.108716543C>T | NCBI36 |
| NG_017090.1:g.44053G>A , LRG_372:g.44053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.1465G>A MANE Select | ENSP00000261740.2:p.Ala489Thr | |
| ENST00000418703.7:c.1465G>A | ENSP00000406191.2:p.Ala489Thr | |
| ENST00000674908.1:c.*552G>A | ENSP00000502012.1:n.*552G>A | |
| ENST00000675533.1:n.1496G>A | ||
| ENST00000675670.1:c.1465G>A | ENSP00000502135.1:p.Ala489Thr | |
| ENST00000676376.1:n.1496G>A | ||
| ENST00000261740.6:c.1465G>A | ENSP00000261740.2:p.Ala489Thr | |
| ENST00000418703.6:c.1465G>A | ENSP00000406191.2:p.Ala489Thr | |
| ENST00000536838.1:c.1363G>A | ENSP00000444336.1:p.Ala455Thr | |
| ENST00000537083.5:c.1285G>A | ENSP00000442738.1:p.Ala429Thr | |
| ENST00000538125.5:c.1465G>A | ENSP00000437449.1:p.Ala489Thr | |
| ENST00000541794.5:c.1324G>A | ENSP00000442167.1:p.Ala442Thr | |
| ENST00000544971.5:c.1144G>A | ENSP00000443611.1:p.Ala382Thr | |
| NM_001177428.1:c.1324G>A | NP_001170899.1:p.Ala442Thr | |
| NM_001177431.1:c.1363G>A | NP_001170902.1:p.Ala455Thr | |
| NM_001177433.1:c.1144G>A | NP_001170904.1:p.Ala382Thr | |
| NM_021625.4:c.1465G>A , LRG_372t1:c.1465G>A | NP_067638.3:p.Ala489Thr | |
| NM_147204.2:c.1285G>A | NP_671737.1:p.Ala429Thr | |
| XM_005253918.1:c.1465G>A | XP_005253975.1:p.Ala489Thr | |
| XM_011538630.1:c.1465G>A | XP_011536932.1:p.Ala489Thr | |
| XM_011538631.1:c.1324G>A | XP_011536933.1:p.Ala442Thr | |
| XM_011538632.1:c.1285G>A | XP_011536934.1:p.Ala429Thr | |
| XM_011538633.1:c.1144G>A | XP_011536935.1:p.Ala382Thr | |
| XM_011538634.1:c.1465G>A | XP_011536936.1:p.Ala489Thr | |
| XM_011538635.1:c.1618G>A | XP_011536937.1:p.Ala540Thr | |
| XM_011538636.1:c.1618G>A | XP_011536938.1:p.Ala540Thr | |
| XM_011538630.2:c.1618G>A | XP_011536932.2:p.Ala540Thr | |
| XM_011538631.2:c.1477G>A | XP_011536933.2:p.Ala493Thr | |
| XM_011538632.2:c.1438G>A | XP_011536934.2:p.Ala480Thr | |
| XM_011538633.2:c.1297G>A | XP_011536935.2:p.Ala433Thr | |
| XM_011538634.2:c.1618G>A | XP_011536936.2:p.Ala540Thr | |
| XM_011538635.2:c.1618G>A | XP_011536937.1:p.Ala540Thr | |
| XM_017019774.1:c.1465G>A | XP_016875263.1:p.Ala489Thr | |
| NM_021625.5:c.1465G>A MANE Select | NP_067638.3:p.Ala489Thr |