Revel Score:
ENST00000155840 (MANE Select)
0.954
ENST00000335475
0.954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583445C>A , CM000673.2:g.2583445C>A | GRCh38 |
| NC_000011.9:g.2604675C>A , CM000673.1:g.2604675C>A | GRCh37 |
| NC_000011.8:g.2561251C>A | NCBI36 |
| NG_008935.1:g.143455C>A , LRG_287:g.143455C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.671C>A | ENSP00000434560.2:p.Thr224Asn | |
| ENST00000646564.2:c.488C>A | ENSP00000495806.2:p.Thr163Asn | |
| ENST00000155840.12:c.932C>A MANE Select | ENSP00000155840.2:p.Thr311Asn | |
| ENST00000335475.6:c.551C>A | ENSP00000334497.5:p.Thr184Asn | |
| ENST00000646564.1:c.134C>A | ENSP00000495806.1:p.Thr45Asn | |
| ENST00000155840.9:c.932C>A | ENSP00000155840.2:p.Thr311Asn | |
| ENST00000335475.5:c.551C>A | ENSP00000334497.5:p.Thr184Asn | |
| NM_000218.2:c.932C>A , LRG_287t1:c.932C>A | NP_000209.2:p.Thr311Asn | |
| NM_181798.1:c.551C>A , LRG_287t2:c.551C>A | NP_861463.1:p.Thr184Asn | |
| NM_000218.3:c.932C>A MANE Select | NP_000209.2:p.Thr311Asn |