Revel Score:
ENST00000343849 (MANE Select)
0.820
ENST00000397368
0.820
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745607A>G , CM000665.2:g.8745607A>G | GRCh38 |
| NC_000003.11:g.8787293A>G , CM000665.1:g.8787293A>G | GRCh37 |
| NC_000003.10:g.8762293A>G | NCBI36 |
| NG_008797.2:g.16798A>G , LRG_329:g.16798A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.196A>G MANE Select | ENSP00000341940.2:p.Thr66Ala | |
| ENST00000343849.2:c.196A>G | ENSP00000341940.2:p.Thr66Ala | |
| ENST00000397368.2:c.196A>G | ENSP00000380525.2:p.Thr66Ala | |
| ENST00000472766.1:n.155+11617A>G | ||
| NM_001234.4:c.196A>G | NP_001225.1:p.Thr66Ala | |
| NM_033337.2:c.196A>G , LRG_329t1:c.196A>G | NP_203123.1:p.Thr66Ala | |
| NM_001234.5:c.196A>G | NP_001225.1:p.Thr66Ala | |
| NM_033337.3:c.196A>G MANE Select | NP_203123.1:p.Thr66Ala |