COSMIC:
COSM6451439 (not active)
Revel Score:
ENST00000262093 (MANE Select)
0.936
ENST00000382873
0.936
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013667 (NFE)
Genomes Max Group AF
0.00005842 (NFE)
Exomes Max Group AF
0.00013793 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57554336G>A , CM000680.2:g.57554336G>A | GRCh38 |
| NC_000018.9:g.55221568G>A , CM000680.1:g.55221568G>A | GRCh37 |
| NC_000018.8:g.53372566G>A | NCBI36 |
| NG_008175.1:g.37402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592699.6:c.902C>T | ENSP00000466263.1:p.Pro301Leu | |
| ENST00000682485.1:n.1176C>T | ||
| ENST00000262093.11:c.1001C>T MANE Select | ENSP00000262093.6:p.Pro334Leu | |
| ENST00000382873.8:c.785C>T | ENSP00000372326.4:p.Pro262Leu | |
| ENST00000651787.1:n.1107C>T | ||
| ENST00000651812.1:n.598C>T | ||
| ENST00000652755.1:c.1019C>T | ENSP00000498358.1:p.Pro340Leu | |
| ENST00000262093.9:c.1001C>T | ENSP00000262093.5:p.Pro334Leu | |
| ENST00000382873.7:c.1019C>T | ENSP00000372326.3:p.Pro340Leu | |
| ENST00000585494.5:c.*728C>T | ENSP00000465243.1:n.*728C>T | |
| ENST00000591977.5:c.268C>T | ||
| ENST00000592699.5:c.902C>T | ENSP00000466263.1:p.Pro301Leu | |
| NM_000140.3:c.1001C>T | NP_000131.2:p.Pro334Leu | |
| NM_001012515.2:c.1019C>T | NP_001012533.1:p.Pro340Leu | |
| XM_011525881.1:c.920C>T | XP_011524183.1:p.Pro307Leu | |
| XM_011525882.1:c.785C>T | XP_011524184.1:p.Pro262Leu | |
| NM_000140.4:c.1001C>T | NP_000131.2:p.Pro334Leu | |
| NM_001012515.3:c.1019C>T | NP_001012533.1:p.Pro340Leu | |
| XM_011525882.2:c.785C>T | XP_011524184.1:p.Pro262Leu | |
| XM_017025614.2:c.902C>T | XP_016881103.1:p.Pro301Leu | |
| NM_000140.5:c.1001C>T MANE Select | NP_000131.2:p.Pro334Leu | |
| NM_001012515.4:c.1019C>T | NP_001012533.1:p.Pro340Leu | |
| NM_001371094.1:c.902C>T | NP_001358023.1:p.Pro301Leu | |
| NM_001371095.1:c.785C>T | NP_001358024.1:p.Pro262Leu | |
| NM_001374778.1:c.1001C>T | NP_001361707.1:p.Pro334Leu |