Revel Score:
ENST00000280527 (MANE Select)
0.550
ENST00000413985
0.550
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.36517486C>T , CM000664.2:g.36517486C>T | GRCh38 |
| NC_000002.11:g.36744629C>T , CM000664.1:g.36744629C>T | GRCh37 |
| NC_000002.10:g.36598133C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280527.7:c.2150C>T MANE Select | ENSP00000280527.2:p.Pro717Leu | |
| ENST00000280527.6:c.2150C>T | ENSP00000280527.2:p.Pro717Leu | |
| ENST00000413985.1:c.236C>T | ENSP00000403120.1:p.Pro79Leu | |
| NM_016441.2:c.2150C>T | NP_057525.1:p.Pro717Leu | |
| XM_005264357.3:c.1976C>T | XP_005264414.1:p.Pro659Leu | |
| XM_011532898.1:c.2273C>T | XP_011531200.1:p.Pro758Leu | |
| XM_011532899.1:c.2273C>T | XP_011531201.1:p.Pro758Leu | |
| XM_011532900.1:c.2057C>T | XP_011531202.1:p.Pro686Leu | |
| XM_011532901.1:c.2273C>T | XP_011531203.1:p.Pro758Leu | |
| XR_939687.1:n.2795C>T | ||
| XM_005264357.5:c.1976C>T | XP_005264414.1:p.Pro659Leu | |
| XM_011532898.3:c.2273C>T | XP_011531200.1:p.Pro758Leu | |
| XM_011532899.3:c.2273C>T | XP_011531201.1:p.Pro758Leu | |
| XM_011532901.3:c.2273C>T | XP_011531203.1:p.Pro758Leu | |
| XM_017004258.2:c.2030C>T | XP_016859747.1:p.Pro677Leu | |
| XM_017004259.1:c.2150C>T | XP_016859748.1:p.Pro717Leu | |
| XM_017004260.2:c.1907C>T | XP_016859749.1:p.Pro636Leu | |
| XM_017004261.1:c.1184C>T | XP_016859750.1:p.Pro395Leu | |
| XM_017004262.1:c.1184C>T | XP_016859751.1:p.Pro395Leu | |
| XM_024452945.1:c.1676C>T | XP_024308713.1:p.Pro559Leu | |
| XM_024452946.1:c.1676C>T | XP_024308714.1:p.Pro559Leu | |
| XM_024452947.1:c.1676C>T | XP_024308715.1:p.Pro559Leu | |
| XM_024452948.1:c.1676C>T | XP_024308716.1:p.Pro559Leu | |
| XR_001738763.2:n.2338C>T | ||
| NM_016441.3:c.2150C>T MANE Select | NP_057525.1:p.Pro717Leu |