Revel Score:
ENST00000367755 (MANE Select)
0.759
ENST00000392085
0.759
ENST00000542847
0.759
ENST00000538429
0.759
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00298298 (NFE)
Genomes Max Group AF
0.00171221 (NFE)
Exomes Max Group AF
0.00304587 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171107811C>T , CM000663.2:g.171107811C>T | GRCh38 |
| NC_000001.10:g.171076952C>T , CM000663.1:g.171076952C>T | GRCh37 |
| NC_000001.9:g.169343576C>T | NCBI36 |
| NG_012690.1:g.21935C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367755.9:c.458C>T MANE Select | ENSP00000356729.4:p.Pro153Leu | |
| ENST00000367755.8:c.458C>T | ENSP00000356729.4:p.Pro153Leu | |
| ENST00000479749.1:c.458C>T | ENSP00000477451.1:p.Pro153Leu | |
| NM_001002294.2:c.458C>T | NP_001002294.1:p.Pro153Leu | |
| NM_006894.5:c.458C>T | NP_008825.4:p.Pro153Leu | |
| XM_005245044.1:c.269C>T | XP_005245101.1:p.Pro90Leu | |
| XM_011509345.1:c.398C>T | XP_011507647.1:p.Pro133Leu | |
| XM_011509346.1:c.398C>T | XP_011507648.1:p.Pro133Leu | |
| NM_001319173.1:c.398C>T | NP_001306102.1:p.Pro133Leu | |
| NM_001319174.1:c.269C>T | NP_001306103.1:p.Pro90Leu | |
| XM_011509345.3:c.398C>T | XP_011507647.1:p.Pro133Leu | |
| XM_024454365.1:c.-90C>T | XP_024310133.1:n.-90C>T | |
| NM_001002294.3:c.458C>T MANE Select | NP_001002294.1:p.Pro153Leu | |
| NM_001319173.2:c.398C>T | NP_001306102.1:p.Pro133Leu | |
| NM_001319174.2:c.269C>T | NP_001306103.1:p.Pro90Leu | |
| NM_006894.6:c.458C>T | NP_008825.4:p.Pro153Leu |