Revel Score:
ENST00000354393
0.887
ENST00000542332
0.887
ENST00000358913 (MANE Select)
0.887
ENST00000540630
0.887
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68199407A>T , CM000672.2:g.68199407A>T | GRCh38 |
| NC_000010.10:g.69959164A>T , CM000672.1:g.69959164A>T | GRCh37 |
| NC_000010.9:g.69629170A>T | NCBI36 |
| NG_032118.1:g.98291A>T , LRG_410:g.98291A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2500A>T | ENSP00000346369.2:p.Asn834Tyr | |
| ENST00000540630.6:c.3379A>T | ENSP00000441668.3:p.Asn1127Tyr | |
| ENST00000613327.5:c.3325A>T | ENSP00000480757.2:p.Asn1109Tyr | |
| ENST00000688812.1:c.*588A>T | ENSP00000510658.1:n.*588A>T | |
| ENST00000690544.1:c.*2596A>T | ENSP00000508989.1:n.*2596A>T | |
| ENST00000358913.10:c.3325A>T MANE Select | ENSP00000351790.5:p.Asn1109Tyr | |
| ENST00000354393.6:c.2500A>T | ENSP00000346369.2:p.Asn834Tyr | |
| ENST00000358913.9:c.3325A>T | ENSP00000351790.5:p.Asn1109Tyr | |
| ENST00000540630.5:c.3325A>T | ENSP00000441668.2:p.Asn1109Tyr | |
| ENST00000613327.4:c.2443A>T | ENSP00000480757.1:p.Asn815Tyr | |
| NM_001256267.1:c.3325A>T | NP_001243196.1:p.Asn1109Tyr | |
| NM_001256268.1:c.2443A>T | NP_001243197.1:p.Asn815Tyr | |
| NM_032578.3:c.3325A>T , LRG_410t1:c.3325A>T | NP_115967.2:p.Asn1109Tyr | |
| NR_045662.3:n.2752A>T | ||
| NR_045663.3:n.3454A>T | ||
| XM_006718043.2:c.3379A>T | XP_006718106.1:p.Asn1127Tyr | |
| XM_011540292.1:c.3355A>T | XP_011538594.1:p.Asn1119Tyr | |
| XR_946029.1:n.1804-132T>A | ||
| XM_017016833.1:c.3403A>T | XP_016872322.1:p.Asn1135Tyr | |
| XM_017016834.2:c.3325A>T | XP_016872323.1:p.Asn1109Tyr | |
| XM_024448236.1:c.2203A>T | XP_024304004.1:p.Asn735Tyr | |
| NR_045662.4:n.2862A>T | ||
| NR_045663.4:n.3399A>T | ||
| NM_001256267.2:c.3325A>T | NP_001243196.1:p.Asn1109Tyr | |
| NM_001256268.2:c.2443A>T | NP_001243197.1:p.Asn815Tyr | |
| NM_032578.4:c.3325A>T MANE Select | NP_115967.2:p.Asn1109Tyr |