Revel Score:
ENST00000393302
0.232
ENST00000227266 (MANE Select)
0.232
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88312415A>C , CM000673.2:g.88312415A>C | GRCh38 |
| NC_000011.9:g.88045583A>C , CM000673.1:g.88045583A>C | GRCh37 |
| NC_000011.8:g.87685231A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.458T>G MANE Select | ENSP00000227266.4:p.Ile153Arg | |
| ENST00000527018.6:c.458T>G | ENSP00000432556.2:p.Ile153Arg | |
| ENST00000533897.2:n.506T>G | ||
| ENST00000676612.1:c.*265T>G | ENSP00000504440.1:n.*265T>G | |
| ENST00000677208.1:c.319-3097T>G | ENSP00000504347.1:n.319-3097T>G | |
| ENST00000677661.1:c.*135T>G | ENSP00000503323.1:n.*135T>G | |
| ENST00000677802.1:c.*135T>G | ENSP00000504115.1:n.*135T>G | |
| ENST00000678395.1:c.423+35T>G | ENSP00000503123.1:n.423+35T>G | |
| ENST00000678464.1:c.458T>G | ENSP00000503046.1:p.Ile153Arg | |
| ENST00000678506.1:c.446+12T>G | ENSP00000503580.1:n.446+12T>G | |
| ENST00000678520.1:c.*265T>G | ENSP00000503361.1:n.*265T>G | |
| ENST00000678554.1:c.458T>G | ENSP00000504541.1:p.Ile153Arg | |
| ENST00000678915.1:c.458T>G | ENSP00000504805.1:p.Ile153Arg | |
| ENST00000679224.1:c.95T>G | ENSP00000504475.1:p.Ile32Arg | |
| ENST00000227266.9:c.458T>G | ENSP00000227266.4:p.Ile153Arg | |
| ENST00000527018.5:c.328T>G | ||
| ENST00000533865.5:n.480T>G | ||
| NM_001814.6:c.458T>G MANE Select | NP_001805.4:p.Ile153Arg |