Revel Score:
ENST00000311895 (MANE Select)
0.163
ENST00000389138
0.163
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948133C>T , CM000678.2:g.13948133C>T | GRCh38 |
| NC_000016.9:g.14041990C>T , CM000678.1:g.14041990C>T | GRCh37 |
| NC_000016.8:g.13949491C>T | NCBI36 |
| NG_011442.1:g.32977C>T , LRG_463:g.32977C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2675C>T | ENSP00000507912.1:p.Pro892Leu | |
| ENST00000683962.1:c.*2231C>T | ENSP00000506854.1:n.*2231C>T | |
| ENST00000311895.8:c.2537C>T MANE Select | ENSP00000310520.7:p.Pro846Leu | |
| ENST00000311895.7:c.2537C>T | ENSP00000310520.7:p.Pro846Leu | |
| ENST00000389138.7:n.1814C>T | ||
| NM_005236.2:c.2537C>T , LRG_463t1:c.2537C>T | NP_005227.1:p.Pro846Leu | |
| XM_011522424.1:c.2675C>T | XP_011520726.1:p.Pro892Leu | |
| XM_011522425.1:c.1994C>T | XP_011520727.1:p.Pro665Leu | |
| XM_011522426.1:c.1748C>T | XP_011520728.1:p.Pro583Leu | |
| XM_011522427.1:c.1187C>T | XP_011520729.1:p.Pro396Leu | |
| XR_932805.1:n.2696C>T | ||
| XM_011522424.3:c.2675C>T | XP_011520726.1:p.Pro892Leu | |
| XM_017023043.2:c.1748C>T | XP_016878532.1:p.Pro583Leu | |
| NM_005236.3:c.2537C>T MANE Select | NP_005227.1:p.Pro846Leu |