Revel Score:
ENST00000296137 (MANE Select)
0.262
ENST00000438446
0.262
ENST00000535325
0.262
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45931195A>G , CM000665.2:g.45931195A>G | GRCh38 |
| NC_000003.11:g.45972687A>G , CM000665.1:g.45972687A>G | GRCh37 |
| NC_000003.10:g.45947691A>G | NCBI36 |
| NG_031955.1:g.69630T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691721.1:n.260T>C | ||
| ENST00000296137.7:c.4127T>C MANE Select | ENSP00000296137.2:p.Leu1376Pro | |
| ENST00000296137.6:c.4127T>C | ENSP00000296137.2:p.Leu1376Pro | |
| ENST00000433878.5:c.493T>C | ||
| ENST00000438446.1:c.140T>C | ENSP00000398517.1:p.Leu47Pro | |
| ENST00000535325.5:c.4187T>C | ENSP00000441178.1:p.Leu1396Pro | |
| NM_024513.3:c.4127T>C | NP_078789.2:p.Leu1376Pro | |
| XM_006713333.2:c.4127T>C | XP_006713396.1:p.Leu1376Pro | |
| XM_006713334.2:c.4127T>C | XP_006713397.1:p.Leu1376Pro | |
| XM_011534111.1:c.4127T>C | XP_011532413.1:p.Leu1376Pro | |
| XM_011534112.1:c.4127T>C | XP_011532414.1:p.Leu1376Pro | |
| XR_245157.1:n.4342T>C | ||
| XM_006713333.3:c.4127T>C | XP_006713396.1:p.Leu1376Pro | |
| XM_006713334.3:c.4127T>C | XP_006713397.1:p.Leu1376Pro | |
| XM_011534111.3:c.4127T>C | XP_011532413.1:p.Leu1376Pro | |
| XR_001740265.1:n.4223T>C | ||
| NM_024513.4:c.4127T>C MANE Select | NP_078789.2:p.Leu1376Pro | |
| NM_001386421.1:c.4127T>C | NP_001373350.1:p.Leu1376Pro | |
| NM_001386422.1:c.4127T>C | NP_001373351.1:p.Leu1376Pro | |
| NM_001386423.1:c.4124T>C | NP_001373352.1:p.Leu1375Pro | |
| NM_001386424.1:c.4127T>C | NP_001373353.1:p.Leu1376Pro | |
| NM_001386425.1:c.4127T>C | NP_001373354.1:p.Leu1376Pro | |
| NM_001386426.1:c.4007T>C | NP_001373355.1:p.Leu1336Pro | |
| NM_001386427.1:c.3983T>C | NP_001373356.1:p.Leu1328Pro | |
| NM_001386428.1:c.4127T>C | NP_001373357.1:p.Leu1376Pro | |
| NM_001386429.1:c.4127T>C | NP_001373358.1:p.Leu1376Pro | |
| NM_001386430.1:c.3527T>C | NP_001373359.1:p.Leu1176Pro | |
| NR_170107.1:n.4342T>C |