Revel Score:
ENST00000343849 (MANE Select)
0.971
ENST00000397368
0.971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745668T>G , CM000665.2:g.8745668T>G | GRCh38 |
| NC_000003.11:g.8787354T>G , CM000665.1:g.8787354T>G | GRCh37 |
| NC_000003.10:g.8762354T>G | NCBI36 |
| NG_008797.2:g.16859T>G , LRG_329:g.16859T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.257T>G MANE Select | ENSP00000341940.2:p.Leu86Arg | |
| ENST00000343849.2:c.257T>G | ENSP00000341940.2:p.Leu86Arg | |
| ENST00000397368.2:c.257T>G | ENSP00000380525.2:p.Leu86Arg | |
| ENST00000472766.1:n.155+11678T>G | ||
| NM_001234.4:c.257T>G | NP_001225.1:p.Leu86Arg | |
| NM_033337.2:c.257T>G , LRG_329t1:c.257T>G | NP_203123.1:p.Leu86Arg | |
| NM_001234.5:c.257T>G | NP_001225.1:p.Leu86Arg | |
| NM_033337.3:c.257T>G MANE Select | NP_203123.1:p.Leu86Arg |