Revel Score:
ENST00000446804
0.041
ENST00000311907 (MANE Select)
0.145
ENST00000530231
0.145
ENST00000442468
0.145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725907G>T , CM000673.2:g.46725907G>T | GRCh38 |
| NC_000011.9:g.46747457G>T , CM000673.1:g.46747457G>T | GRCh37 |
| NC_000011.8:g.46704033G>T | NCBI36 |
| NG_008953.1:g.11715G>T , LRG_551:g.11715G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.608G>T MANE Select | ENSP00000308541.5:p.Ser203Ile | |
| ENST00000311907.9:c.608G>T | ENSP00000308541.5:p.Ser203Ile | |
| ENST00000442468.1:c.578G>T | ENSP00000387413.1:p.Ser193Ile | |
| ENST00000490274.1:n.388G>T | ||
| ENST00000530231.5:c.608G>T | ENSP00000433907.1:p.Ser203Ile | |
| NM_000506.3:c.608G>T | NP_000497.1:p.Ser203Ile | |
| NM_000506.4:c.608G>T , LRG_551t1:c.608G>T | NP_000497.1:p.Ser203Ile | |
| NM_001311257.1:c.560G>T | NP_001298186.1:p.Ser187Ile | |
| XR_428840.2:n.652G>T | ||
| XR_428840.4:n.643G>T | ||
| NM_000506.5:c.608G>T MANE Select | NP_000497.1:p.Ser203Ile | |
| NM_001311257.2:c.560G>T | NP_001298186.1:p.Ser187Ile |