Revel Score:
ENST00000288774
0.713
ENST00000447513 (MANE Select)
0.713
ENST00000507596
0.713
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2405815C>A , CM000663.2:g.2405815C>A | GRCh38 |
| NC_000001.10:g.2337254C>A , CM000663.1:g.2337254C>A | GRCh37 |
| NC_000001.9:g.2327114C>A | NCBI36 |
| NG_008342.1:g.11757G>T | |
| NG_016128.1:g.19041C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.992G>T | ENSP00000288774.3:p.Arg331Leu | |
| ENST00000447513.7:c.932G>T MANE Select | ENSP00000407922.2:p.Arg311Leu | |
| ENST00000650293.1:c.886G>T | ||
| ENST00000288774.7:c.992G>T | ENSP00000288774.3:p.Arg331Leu | |
| ENST00000447513.6:c.932G>T | ENSP00000407922.2:p.Arg311Leu | |
| ENST00000507596.5:c.926G>T | ENSP00000424291.1:p.Arg309Leu | |
| NM_002617.3:c.932G>T | NP_002608.1:p.Arg311Leu | |
| NM_153818.1:c.992G>T | NP_722540.1:p.Arg331Leu | |
| XM_011541573.1:c.989G>T | XP_011539875.1:p.Arg330Leu | |
| XM_011541574.1:c.557G>T | XP_011539876.1:p.Arg186Leu | |
| XM_011541575.1:c.557G>T | XP_011539877.1:p.Arg186Leu | |
| XR_946666.1:n.1048G>T | ||
| XR_946666.2:n.997G>T | ||
| NM_001374425.1:c.989G>T | NP_001361354.1:p.Arg330Leu | |
| NM_001374426.1:c.557G>T | NP_001361355.1:p.Arg186Leu | |
| NM_001374427.1:c.500G>T | NP_001361356.1:p.Arg167Leu | |
| NM_002617.4:c.932G>T MANE Select | NP_002608.1:p.Arg311Leu | |
| NM_153818.2:c.992G>T | NP_722540.1:p.Arg331Leu | |
| NR_164636.1:n.1047G>T |