Revel Score:
ENST00000302118 (MANE Select)
0.523
ENST00000543384
0.523
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55052398G>T , CM000663.2:g.55052398G>T | GRCh38 |
| NC_000001.10:g.55518071G>T , CM000663.1:g.55518071G>T | GRCh37 |
| NC_000001.9:g.55290659G>T | NCBI36 |
| NG_009061.1:g.17852G>T , LRG_275:g.17852G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.644G>T | ENSP00000501161.2:p.Arg215Leu | |
| ENST00000710286.1:c.1001G>T | ENSP00000518176.1:p.Arg334Leu | |
| ENST00000673726.1:c.*140G>T | ENSP00000501004.1:n.*140G>T | |
| ENST00000673903.1:c.269G>T | ENSP00000501257.1:p.Arg90Leu | |
| ENST00000302118.5:c.644G>T MANE Select | ENSP00000303208.5:p.Arg215Leu | |
| ENST00000490692.1:n.1465G>T | ||
| NM_174936.3:c.644G>T , LRG_275t1:c.644G>T | NP_777596.2:p.Arg215Leu | |
| NR_110451.1:n.303G>T | ||
| NM_174936.4:c.644G>T MANE Select | NP_777596.2:p.Arg215Leu | |
| NR_110451.2:n.303G>T |