Revel Score:
ENST00000262464 (MANE Select)
0.928
ENST00000508053
0.928
ENST00000507835
0.928
ENST00000508989
0.928
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335566A>G , CM000667.2:g.128335566A>G | GRCh38 |
| NC_000005.9:g.127671258A>G , CM000667.1:g.127671258A>G | GRCh37 |
| NC_000005.8:g.127699157A>G | NCBI36 |
| NG_008750.1:g.207478T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.520T>C | ||
| ENST00000703785.1:n.601T>C | ||
| ENST00000262464.9:c.3736T>C MANE Select | ENSP00000262464.4:p.Cys1246Arg | |
| ENST00000262464.8:c.3736T>C | ENSP00000262464.4:p.Cys1246Arg | |
| ENST00000507835.5:c.286T>C | ENSP00000426839.1:p.Cys96Arg | |
| ENST00000508053.5:c.3736T>C | ENSP00000424571.1:p.Cys1246Arg | |
| ENST00000508989.5:c.3637T>C | ENSP00000425596.1:p.Cys1213Arg | |
| ENST00000619499.4:c.3733T>C | ENSP00000482132.1:p.Cys1245Arg | |
| NM_001999.3:c.3736T>C | NP_001990.2:p.Cys1246Arg | |
| XM_017009228.2:c.3583T>C | XP_016864717.1:p.Cys1195Arg | |
| NM_001999.4:c.3736T>C MANE Select | NP_001990.2:p.Cys1246Arg |