Revel Score:
ENST00000343257 (MANE Select)
0.892
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143324442C>G , CM000669.2:g.143324442C>G | GRCh38 |
| NC_000007.13:g.143021535C>G , CM000669.1:g.143021535C>G | GRCh37 |
| NC_000007.12:g.142731657C>G | NCBI36 |
| NG_009815.1:g.13317C>G | |
| NG_009815.2:g.13317C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.853+545C>G | ENSP00000498052.2:n.853+545C>G | |
| ENST00000343257.7:c.803C>G MANE Select | ENSP00000339867.2:p.Thr268Arg | |
| ENST00000432192.6:c.627C>G | ||
| ENST00000455478.6:c.391C>G | ENSP00000400027.2:n.391C>G | |
| ENST00000650516.1:c.853+545C>G | ENSP00000498052.1:n.853+545C>G | |
| ENST00000343257.6:c.803C>G | ENSP00000339867.2:p.Thr268Arg | |
| ENST00000432192.5:c.317C>G | ||
| ENST00000455478.5:c.395C>G | ||
| ENST00000495612.1:n.154+2594C>G | ||
| NM_000083.2:c.803C>G | NP_000074.2:p.Thr268Arg | |
| NR_046453.1:n.893C>G | ||
| XM_011515781.1:c.853+545C>G | XP_011514083.1:n.853+545C>G | |
| XM_017011739.1:c.403+2594C>G | XP_016867228.1:n.403+2594C>G | |
| XM_017011740.1:c.403+2594C>G | XP_016867229.1:n.403+2594C>G | |
| NM_000083.3:c.803C>G MANE Select | NP_000074.3:p.Thr268Arg | |
| NR_046453.2:n.908C>G |