Revel Score:
ENST00000295454 (MANE Select)
0.961
ENST00000538619
0.961
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406706C>T , CM000666.2:g.47406706C>T | GRCh38 |
| NC_000004.11:g.47408723C>T , CM000666.1:g.47408723C>T | GRCh37 |
| NC_000004.10:g.47103480C>T | NCBI36 |
| NG_051831.1:g.380429C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.860C>T MANE Select | ENSP00000295454.3:p.Thr287Ile | |
| ENST00000295454.7:c.860C>T | ENSP00000295454.3:p.Thr287Ile | |
| NM_000812.3:c.860C>T | NP_000803.2:p.Thr287Ile | |
| XM_011513678.1:c.839C>T | XP_011511980.1:p.Thr280Ile | |
| XM_017007985.1:c.209C>T | XP_016863474.1:p.Thr70Ile | |
| XM_024453976.1:c.761C>T | XP_024309744.1:p.Thr254Ile | |
| XM_024453977.1:c.761C>T | XP_024309745.1:p.Thr254Ile | |
| XM_024453978.1:c.761C>T | XP_024309746.1:p.Thr254Ile | |
| NM_000812.4:c.860C>T MANE Select | NP_000803.2:p.Thr287Ile |