Revel Score:
ENST00000311895 (MANE Select)
0.058
ENST00000389138
0.058
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947762G>T , CM000678.2:g.13947762G>T | GRCh38 |
| NC_000016.9:g.14041619G>T , CM000678.1:g.14041619G>T | GRCh37 |
| NC_000016.8:g.13949120G>T | NCBI36 |
| NG_011442.1:g.32606G>T , LRG_463:g.32606G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2304G>T | ENSP00000507912.1:p.Met768Ile | |
| ENST00000683962.1:c.*1860G>T | ENSP00000506854.1:n.*1860G>T | |
| ENST00000311895.8:c.2166G>T MANE Select | ENSP00000310520.7:p.Met722Ile | |
| ENST00000311895.7:c.2166G>T | ENSP00000310520.7:p.Met722Ile | |
| ENST00000389138.7:n.1443G>T | ||
| ENST00000462862.1:c.479G>T | ENSP00000461322.1:n.479G>T | |
| NM_005236.2:c.2166G>T , LRG_463t1:c.2166G>T | NP_005227.1:p.Met722Ile | |
| XM_011522424.1:c.2304G>T | XP_011520726.1:p.Met768Ile | |
| XM_011522425.1:c.1623G>T | XP_011520727.1:p.Met541Ile | |
| XM_011522426.1:c.1377G>T | XP_011520728.1:p.Met459Ile | |
| XM_011522427.1:c.816G>T | XP_011520729.1:p.Met272Ile | |
| XR_932805.1:n.2325G>T | ||
| XM_011522424.3:c.2304G>T | XP_011520726.1:p.Met768Ile | |
| XM_017023043.2:c.1377G>T | XP_016878532.1:p.Met459Ile | |
| NM_005236.3:c.2166G>T MANE Select | NP_005227.1:p.Met722Ile |