Revel Score:
ENST00000449082 (MANE Select)
0.593
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016832 (AMR)
Genomes Max Group AF
0.00012872 (AMR)
Exomes Max Group AF
0.00013859 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38752313A>G , CM000665.2:g.38752313A>G | GRCh38 |
| NC_000003.11:g.38793804A>G , CM000665.1:g.38793804A>G | GRCh37 |
| NC_000003.10:g.38768808A>G | NCBI36 |
| NG_031891.2:g.46698T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.1661T>C MANE Select | ENSP00000390600.2:p.Leu554Pro | |
| ENST00000643924.1:c.1661T>C | ENSP00000495595.1:p.Leu554Pro | |
| ENST00000655275.1:c.1688T>C | ENSP00000499510.1:p.Leu563Pro | |
| ENST00000449082.2:c.1661T>C | ENSP00000390600.2:p.Leu554Pro | |
| NM_001293306.2:c.1661T>C | NP_001280235.2:p.Leu554Pro | |
| NM_001293307.2:c.1462-2129T>C | NP_001280236.2:n.1462-2129T>C | |
| NM_006514.3:c.1661T>C | NP_006505.3:p.Leu554Pro | |
| XM_005265371.2:c.1670T>C | XP_005265428.1:p.Leu557Pro | |
| XM_011533993.1:c.1670T>C | XP_011532295.1:p.Leu557Pro | |
| XM_011533994.1:c.1471-2129T>C | XP_011532296.1:n.1471-2129T>C | |
| XM_005265371.3:c.1670T>C | XP_005265428.1:p.Leu557Pro | |
| XM_011533993.2:c.1670T>C | XP_011532295.1:p.Leu557Pro | |
| XM_011533994.2:c.1471-2129T>C | XP_011532296.1:n.1471-2129T>C | |
| NM_006514.4:c.1661T>C MANE Select | NP_006505.4:p.Leu554Pro |