Revel Score:
ENST00000298552 (MANE Select)
0.155
ENST00000440111
0.155
ENST00000545250
0.155
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007257 (EAS)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.0000651 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132896302G>A , CM000671.2:g.132896302G>A | GRCh38 |
| NC_000009.11:g.135771689G>A , CM000671.1:g.135771689G>A | GRCh37 |
| NC_000009.10:g.134761510G>A | NCBI36 |
| NG_012386.1:g.53332C>T , LRG_486:g.53332C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.3425C>T | ENSP00000496126.2:p.Pro1142Leu | |
| ENST00000490179.4:c.3428C>T | ENSP00000495533.2:p.Pro1143Leu | |
| ENST00000642261.2:c.*1284C>T | ENSP00000494743.2:n.*1284C>T | |
| ENST00000643275.2:c.*1368C>T | ENSP00000495598.2:n.*1368C>T | |
| ENST00000643362.2:c.3041C>T | ENSP00000496398.2:p.Pro1014Leu | |
| ENST00000643625.2:c.*1170C>T | ENSP00000495546.2:n.*1170C>T | |
| ENST00000643691.2:c.3065C>T | ENSP00000494916.2:p.Pro1022Leu | |
| ENST00000644184.2:c.3386C>T | ENSP00000495428.2:p.Pro1129Leu | |
| ENST00000645129.2:c.3272C>T | ENSP00000493639.2:p.Pro1091Leu | |
| ENST00000646440.2:c.3428C>T | ENSP00000495830.2:p.Pro1143Leu | |
| ENST00000298552.9:c.3428C>T MANE Select | ENSP00000298552.3:p.Pro1143Leu | |
| ENST00000642617.1:c.3425C>T | ENSP00000493773.1:p.Pro1142Leu | |
| ENST00000642627.1:c.3410C>T | ENSP00000496772.1:p.Pro1137Leu | |
| ENST00000642811.1:c.*3198C>T | ENSP00000495554.1:n.*3198C>T | |
| ENST00000643072.1:c.3275C>T | ENSP00000496691.1:p.Pro1092Leu | |
| ENST00000643583.1:c.3413C>T | ENSP00000494685.1:p.Pro1138Leu | |
| ENST00000643625.1:c.1305C>T | ENSP00000495546.1:n.1305C>T | |
| ENST00000643875.1:c.3428C>T | ENSP00000495158.1:p.Pro1143Leu | |
| ENST00000644097.1:c.3425C>T | ENSP00000494682.1:p.Pro1142Leu | |
| ENST00000644184.1:c.2123C>T | ENSP00000495428.1:p.Pro708Leu | |
| ENST00000644255.1:c.*3195C>T | ENSP00000493608.1:n.*3195C>T | |
| ENST00000644319.1:n.3803C>T | ||
| ENST00000644786.1:n.1087C>T | ||
| ENST00000644882.1:n.2336C>T | ||
| ENST00000645901.1:n.4279C>T | ||
| ENST00000646391.1:c.*3198C>T | ENSP00000494104.1:n.*3198C>T | |
| ENST00000646625.1:c.3428C>T | ENSP00000496263.1:p.Pro1143Leu | |
| ENST00000647262.1:n.2393C>T | ||
| ENST00000647279.1:c.*2667C>T | ENSP00000494502.1:n.*2667C>T | |
| ENST00000647534.1:n.2492C>T | ||
| ENST00000298552.7:c.3428C>T | ENSP00000298552.3:p.Pro1143Leu | |
| ENST00000440111.6:c.3428C>T | ENSP00000394524.2:p.Pro1143Leu | |
| ENST00000545250.5:c.3275C>T | ENSP00000444017.1:p.Pro1092Leu | |
| NM_000368.4:c.3428C>T , LRG_486t1:c.3428C>T | NP_000359.1:p.Pro1143Leu | |
| NM_001162426.1:c.3425C>T | NP_001155898.1:p.Pro1142Leu | |
| NM_001162427.1:c.3275C>T | NP_001155899.1:p.Pro1092Leu | |
| XM_005272211.1:c.3428C>T | XP_005272268.1:p.Pro1143Leu | |
| XM_006717271.1:c.3428C>T | XP_006717334.1:p.Pro1143Leu | |
| XM_011518979.1:c.3428C>T | XP_011517281.1:p.Pro1143Leu | |
| NM_001362177.1:c.3065C>T | NP_001349106.1:p.Pro1022Leu | |
| XM_011518979.2:c.3428C>T | XP_011517281.1:p.Pro1143Leu | |
| XM_017015096.1:c.3428C>T | XP_016870585.1:p.Pro1143Leu | |
| XM_017015097.1:c.3428C>T | XP_016870586.1:p.Pro1143Leu | |
| XM_017015098.1:c.3425C>T | XP_016870587.1:p.Pro1142Leu | |
| XM_017015100.1:c.3065C>T | XP_016870589.1:p.Pro1022Leu | |
| XM_017015101.1:c.3062C>T | XP_016870590.1:p.Pro1021Leu | |
| NM_000368.5:c.3428C>T MANE Select | NP_000359.1:p.Pro1143Leu | |
| NM_001162426.2:c.3425C>T | NP_001155898.1:p.Pro1142Leu | |
| NM_001162427.2:c.3275C>T | NP_001155899.1:p.Pro1092Leu | |
| NM_001362177.2:c.3065C>T | NP_001349106.1:p.Pro1022Leu |