Revel Score:
ENST00000542917
0.461
ENST00000267163 (MANE Select)
0.461
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48480010C>G , CM000675.2:g.48480010C>G | GRCh38 |
| NC_000013.10:g.49054146C>G , CM000675.1:g.49054146C>G | GRCh37 |
| NC_000013.9:g.47952147C>G | NCBI36 |
| NG_009009.1:g.181264C>G , LRG_517:g.181264C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2726C>G MANE Select | ENSP00000267163.4:p.Thr909Arg | |
| ENST00000643064.1:c.194+98567C>G | ||
| ENST00000650461.1:c.2745C>G | ENSP00000497193.1:p.Asn915Lys | |
| ENST00000267163.4:c.2726C>G | ENSP00000267163.4:p.Thr909Arg | |
| ENST00000484879.1:n.460C>G | ||
| ENST00000531171.5:n.329C>G | ||
| NM_000321.2:c.2726C>G , LRG_517t1:c.2726C>G | NP_000312.2:p.Thr909Arg | |
| XM_011535171.1:c.2465C>G | XP_011533473.1:p.Thr822Arg | |
| XM_011535171.2:c.2465C>G | XP_011533473.1:p.Thr822Arg | |
| NM_000321.3:c.2726C>G MANE Select | NP_000312.2:p.Thr909Arg |