Revel Score:
ENST00000345060 (MANE Select)
0.045
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002981 (EAS)
Exomes Max Group AF
0.0000335 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966181A>T , CM000670.2:g.37966181A>T | GRCh38 |
| NC_000008.10:g.37823699A>T , CM000670.1:g.37823699A>T | GRCh37 |
| NC_000008.9:g.37942856A>T | NCBI36 |
| NG_011936.1:g.5486T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.289T>A MANE Select | ENSP00000343782.3:p.Leu97Met | |
| ENST00000520341.2:n.417T>A | ||
| ENST00000345060.4:c.289T>A | ENSP00000343782.3:p.Leu97Met | |
| ENST00000614635.1:c.289T>A | ENSP00000480325.1:p.Leu97Met | |
| NM_000025.2:c.289T>A | NP_000016.1:p.Leu97Met | |
| NM_000025.3:c.289T>A MANE Select | NP_000016.1:p.Leu97Met |