Revel Score:
ENST00000449082 (MANE Select)
0.211
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90596491 (AFR)
Genomes Max Group AF
0.89962735 (AFR)
Exomes Max Group AF
0.90857557 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38725184A>G , CM000665.2:g.38725184A>G | GRCh38 |
| NC_000003.11:g.38766675A>G , CM000665.1:g.38766675A>G | GRCh37 |
| NC_000003.10:g.38741679A>G | NCBI36 |
| NG_031891.2:g.73827T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3218T>C MANE Select | ENSP00000390600.2:p.Val1073Ala | |
| ENST00000643924.1:c.3215T>C | ENSP00000495595.1:p.Val1072Ala | |
| ENST00000655275.1:c.3242T>C | ENSP00000499510.1:p.Val1081Ala | |
| ENST00000449082.2:c.3218T>C | ENSP00000390600.2:p.Val1073Ala | |
| NM_001293306.2:c.3215T>C | NP_001280235.2:p.Val1072Ala | |
| NM_001293307.2:c.2924T>C | NP_001280236.2:p.Val975Ala | |
| NM_006514.3:c.3218T>C | NP_006505.3:p.Val1073Ala | |
| XM_005265371.2:c.3227T>C | XP_005265428.1:p.Val1076Ala | |
| XM_011533993.1:c.3224T>C | XP_011532295.1:p.Val1075Ala | |
| XM_011533994.1:c.2933T>C | XP_011532296.1:p.Val978Ala | |
| XM_005265371.3:c.3227T>C | XP_005265428.1:p.Val1076Ala | |
| XM_011533993.2:c.3224T>C | XP_011532295.1:p.Val1075Ala | |
| XM_011533994.2:c.2933T>C | XP_011532296.1:p.Val978Ala | |
| NM_006514.4:c.3218T>C MANE Select | NP_006505.4:p.Val1073Ala |