Revel Score:
ENST00000354393
0.834
ENST00000542332
0.834
ENST00000358913 (MANE Select)
0.834
ENST00000540630
0.834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68199408A>T , CM000672.2:g.68199408A>T | GRCh38 |
| NC_000010.10:g.69959165A>T , CM000672.1:g.69959165A>T | GRCh37 |
| NC_000010.9:g.69629171A>T | NCBI36 |
| NG_032118.1:g.98292A>T , LRG_410:g.98292A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2501A>T | ENSP00000346369.2:p.Asn834Ile | |
| ENST00000540630.6:c.3380A>T | ENSP00000441668.3:p.Asn1127Ile | |
| ENST00000613327.5:c.3326A>T | ENSP00000480757.2:p.Asn1109Ile | |
| ENST00000688812.1:c.*589A>T | ENSP00000510658.1:n.*589A>T | |
| ENST00000690544.1:c.*2597A>T | ENSP00000508989.1:n.*2597A>T | |
| ENST00000358913.10:c.3326A>T MANE Select | ENSP00000351790.5:p.Asn1109Ile | |
| ENST00000354393.6:c.2501A>T | ENSP00000346369.2:p.Asn834Ile | |
| ENST00000358913.9:c.3326A>T | ENSP00000351790.5:p.Asn1109Ile | |
| ENST00000540630.5:c.3326A>T | ENSP00000441668.2:p.Asn1109Ile | |
| ENST00000613327.4:c.2444A>T | ENSP00000480757.1:p.Asn815Ile | |
| NM_001256267.1:c.3326A>T | NP_001243196.1:p.Asn1109Ile | |
| NM_001256268.1:c.2444A>T | NP_001243197.1:p.Asn815Ile | |
| NM_032578.3:c.3326A>T , LRG_410t1:c.3326A>T | NP_115967.2:p.Asn1109Ile | |
| NR_045662.3:n.2753A>T | ||
| NR_045663.3:n.3455A>T | ||
| XM_006718043.2:c.3380A>T | XP_006718106.1:p.Asn1127Ile | |
| XM_011540292.1:c.3356A>T | XP_011538594.1:p.Asn1119Ile | |
| XR_946029.1:n.1804-133T>A | ||
| XM_017016833.1:c.3404A>T | XP_016872322.1:p.Asn1135Ile | |
| XM_017016834.2:c.3326A>T | XP_016872323.1:p.Asn1109Ile | |
| XM_024448236.1:c.2204A>T | XP_024304004.1:p.Asn735Ile | |
| NR_045662.4:n.2863A>T | ||
| NR_045663.4:n.3400A>T | ||
| NM_001256267.2:c.3326A>T | NP_001243196.1:p.Asn1109Ile | |
| NM_001256268.2:c.2444A>T | NP_001243197.1:p.Asn815Ile | |
| NM_032578.4:c.3326A>T MANE Select | NP_115967.2:p.Asn1109Ile |