Revel Score:
ENST00000354393
0.543
ENST00000542332
0.543
ENST00000358913 (MANE Select)
0.543
ENST00000540630
0.543
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68199486C>G , CM000672.2:g.68199486C>G | GRCh38 |
| NC_000010.10:g.69959243C>G , CM000672.1:g.69959243C>G | GRCh37 |
| NC_000010.9:g.69629249C>G | NCBI36 |
| NG_032118.1:g.98370C>G , LRG_410:g.98370C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2579C>G | ENSP00000346369.2:p.Pro860Arg | |
| ENST00000540630.6:c.3458C>G | ENSP00000441668.3:p.Pro1153Arg | |
| ENST00000613327.5:c.3404C>G | ENSP00000480757.2:p.Pro1135Arg | |
| ENST00000688812.1:c.*667C>G | ENSP00000510658.1:n.*667C>G | |
| ENST00000690544.1:c.*2675C>G | ENSP00000508989.1:n.*2675C>G | |
| ENST00000358913.10:c.3404C>G MANE Select | ENSP00000351790.5:p.Pro1135Arg | |
| ENST00000354393.6:c.2579C>G | ENSP00000346369.2:p.Pro860Arg | |
| ENST00000358913.9:c.3404C>G | ENSP00000351790.5:p.Pro1135Arg | |
| ENST00000540630.5:c.3404C>G | ENSP00000441668.2:p.Pro1135Arg | |
| ENST00000613327.4:c.2522C>G | ENSP00000480757.1:p.Pro841Arg | |
| NM_001256267.1:c.3404C>G | NP_001243196.1:p.Pro1135Arg | |
| NM_001256268.1:c.2522C>G | NP_001243197.1:p.Pro841Arg | |
| NM_032578.3:c.3404C>G , LRG_410t1:c.3404C>G | NP_115967.2:p.Pro1135Arg | |
| NR_045662.3:n.2831C>G | ||
| NR_045663.3:n.3533C>G | ||
| XM_006718043.2:c.3458C>G | XP_006718106.1:p.Pro1153Arg | |
| XM_011540292.1:c.3434C>G | XP_011538594.1:p.Pro1145Arg | |
| XR_946029.1:n.1804-211G>C | ||
| XM_017016833.1:c.3482C>G | XP_016872322.1:p.Pro1161Arg | |
| XM_017016834.2:c.3404C>G | XP_016872323.1:p.Pro1135Arg | |
| XM_024448236.1:c.2282C>G | XP_024304004.1:p.Pro761Arg | |
| NR_045662.4:n.2941C>G | ||
| NR_045663.4:n.3478C>G | ||
| NM_001256267.2:c.3404C>G | NP_001243196.1:p.Pro1135Arg | |
| NM_001256268.2:c.2522C>G | NP_001243197.1:p.Pro841Arg | |
| NM_032578.4:c.3404C>G MANE Select | NP_115967.2:p.Pro1135Arg |