Revel Score:
ENST00000378043 (MANE Select)
0.939
ENST00000378042
0.939
ENST00000449131
0.939
ENST00000526988
0.939
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000184 (NFE)
Exomes Max Group AF
0.00000195 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61958159C>T , CM000673.2:g.61958159C>T | GRCh38 |
| NC_000011.9:g.61725631C>T , CM000673.1:g.61725631C>T | GRCh37 |
| NC_000011.8:g.61482207C>T | NCBI36 |
| NG_009033.1:g.13276C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.728C>T MANE Select | ENSP00000367282.4:p.Ala243Val | |
| ENST00000378043.8:c.728C>T | ENSP00000367282.4:p.Ala243Val | |
| ENST00000449131.6:c.548C>T | ENSP00000399709.2:p.Ala183Val | |
| ENST00000524877.5:n.1160C>T | ||
| ENST00000524926.5:c.728C>T | ENSP00000432681.1:p.Ala243Val | |
| ENST00000526988.1:c.410C>T | ENSP00000433195.1:p.Ala137Val | |
| ENST00000529265.5:n.651C>T | ||
| ENST00000534553.5:c.163+2208C>T | ENSP00000431189.1:n.163+2208C>T | |
| NM_001139443.1:c.548C>T | NP_001132915.1:p.Ala183Val | |
| NM_001300786.1:c.548C>T | NP_001287715.1:p.Ala183Val | |
| NM_001300787.1:c.548C>T | NP_001287716.1:p.Ala183Val | |
| NM_004183.3:c.728C>T | NP_004174.1:p.Ala243Val | |
| XM_005274210.2:c.728C>T | XP_005274267.1:p.Ala243Val | |
| XM_005274215.2:c.410C>T | XP_005274272.1:p.Ala137Val | |
| XM_005274216.2:c.548C>T | XP_005274273.1:p.Ala183Val | |
| XM_005274218.3:c.410C>T | XP_005274275.1:p.Ala137Val | |
| XM_005274219.2:c.728C>T | XP_005274276.1:p.Ala243Val | |
| XM_005274221.2:c.714+695C>T | XP_005274278.1:n.714+695C>T | |
| XM_011545229.1:c.728C>T | XP_011543531.1:p.Ala243Val | |
| XM_011545230.1:c.635C>T | XP_011543532.1:p.Ala212Val | |
| XM_011545231.1:c.410C>T | XP_011543533.1:p.Ala137Val | |
| XM_011545232.1:c.728C>T | XP_011543534.1:p.Ala243Val | |
| NM_001363591.1:c.410C>T | NP_001350520.1:p.Ala137Val | |
| NM_001363592.1:c.728C>T | NP_001350521.1:p.Ala243Val | |
| NM_001363593.1:c.-448C>T | NP_001350522.1:n.-448C>T | |
| NR_134580.1:n.1308C>T | ||
| XM_005274210.4:c.728C>T | XP_005274267.1:p.Ala243Val | |
| XM_005274215.4:c.410C>T | XP_005274272.1:p.Ala137Val | |
| XM_005274216.4:c.548C>T | XP_005274273.1:p.Ala183Val | |
| XM_005274219.4:c.728C>T | XP_005274276.1:p.Ala243Val | |
| XM_005274221.4:c.714+695C>T | XP_005274278.1:n.714+695C>T | |
| XM_011545229.3:c.728C>T | XP_011543531.1:p.Ala243Val | |
| XM_011545230.3:c.635C>T | XP_011543532.1:p.Ala212Val | |
| XM_017018230.2:c.410C>T | XP_016873719.1:p.Ala137Val | |
| XR_001747952.2:n.1226C>T | ||
| XR_001747953.2:n.1418C>T | ||
| XR_001747954.2:n.1404+695C>T | ||
| XR_001748245.1:n.570G>A | ||
| XR_002957249.1:n.505+65G>A | ||
| NM_004183.4:c.728C>T MANE Select | NP_004174.1:p.Ala243Val | |
| NM_001139443.2:c.548C>T | NP_001132915.1:p.Ala183Val | |
| NM_001300786.2:c.548C>T | NP_001287715.1:p.Ala183Val | |
| NM_001300787.2:c.548C>T | NP_001287716.1:p.Ala183Val | |
| NM_001363591.2:c.410C>T | NP_001350520.1:p.Ala137Val | |
| NM_001363593.2:c.-448C>T | NP_001350522.1:n.-448C>T | |
| NR_134580.2:n.841C>T |