Revel Score:
ENST00000205557 (MANE Select)
0.958
ENST00000456970
0.958
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16178919C>A , CM000678.2:g.16178919C>A | GRCh38 |
| NC_000016.9:g.16272776C>A , CM000678.1:g.16272776C>A | GRCh37 |
| NC_000016.8:g.16180277C>A | NCBI36 |
| NG_007558.2:g.49553G>T | |
| NG_007558.3:g.49699G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2294G>T | ENSP00000483331.2:p.Arg765Leu | |
| ENST00000205557.12:c.2294G>T MANE Select | ENSP00000205557.7:p.Arg765Leu | |
| ENST00000205557.11:c.2294G>T | ENSP00000205557.7:p.Arg765Leu | |
| ENST00000456970.6:c.2294G>T | ENSP00000405002.2:p.Arg765Leu | |
| ENST00000622290.4:c.2294G>T | ENSP00000483331.1:p.Arg765Leu | |
| NM_001171.5:c.2294G>T | NP_001162.4:p.Arg765Leu | |
| XM_011522479.1:c.2294G>T | XP_011520781.1:p.Arg765Leu | |
| XM_011522480.1:c.1952G>T | XP_011520782.1:p.Arg651Leu | |
| XM_011522481.1:c.1952G>T | XP_011520783.1:p.Arg651Leu | |
| XM_011522482.1:c.2294G>T | XP_011520784.1:p.Arg765Leu | |
| XR_932836.1:n.2529G>T | ||
| XR_932837.1:n.2530G>T | ||
| XR_932838.1:n.2530G>T | ||
| NM_001351800.1:c.1952G>T | NP_001338729.1:p.Arg651Leu | |
| NR_147784.1:n.2331G>T | ||
| XM_011522479.2:c.2294G>T | XP_011520781.1:p.Arg765Leu | |
| XM_011522481.3:c.1952G>T | XP_011520783.1:p.Arg651Leu | |
| XM_011522482.3:c.2294G>T | XP_011520784.1:p.Arg765Leu | |
| XM_017023212.1:c.2248-1293G>T | XP_016878701.1:n.2248-1293G>T | |
| XM_017023214.1:c.2294G>T | XP_016878703.1:p.Arg765Leu | |
| XM_024450261.1:c.2330G>T | XP_024306029.1:p.Arg777Leu | |
| XR_932836.2:n.2475G>T | ||
| XR_932837.3:n.2475G>T | ||
| XR_932838.3:n.2475G>T | ||
| NM_001171.6:c.2294G>T MANE Select | NP_001162.5:p.Arg765Leu |