Revel Score:
ENST00000356231 (MANE Select)
0.844
ENST00000267892
0.844
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005057 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00005018 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42726386T>A , CM000677.2:g.42726386T>A | GRCh38 |
| NC_000015.9:g.43018584T>A , CM000677.1:g.43018584T>A | GRCh37 |
| NC_000015.8:g.40805876T>A | NCBI36 |
| NG_012491.1:g.15834A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356231.4:c.3128A>T MANE Select | ENSP00000348564.3:p.Asp1043Val | |
| ENST00000643434.1:c.*2259A>T | ENSP00000494699.1:n.*2259A>T | |
| ENST00000356231.3:c.3128A>T | ENSP00000348564.3:p.Asp1043Val | |
| ENST00000562465.5:c.1074A>T | ENSP00000454246.1:n.1074A>T | |
| NM_138477.2:c.3128A>T | NP_612486.2:p.Asp1043Val | |
| XM_005254176.3:c.3131A>T | XP_005254233.1:p.Asp1044Val | |
| XM_011521270.1:c.3155A>T | XP_011519572.1:p.Asp1052Val | |
| XM_011521271.1:c.3152A>T | XP_011519573.1:p.Asp1051Val | |
| XM_011521272.1:c.3155A>T | XP_011519574.1:p.Asp1052Val | |
| XM_011521273.1:c.*30A>T | XP_011519575.1:n.*30A>T | |
| XM_011521274.1:c.2120A>T | XP_011519576.1:p.Asp707Val | |
| XM_011521275.1:c.2372A>T | XP_011519577.1:p.Asp791Val | |
| NM_138477.4:c.3128A>T MANE Select | NP_612486.2:p.Asp1043Val | |
| XM_005254176.5:c.3131A>T | XP_005254233.1:p.Asp1044Val | |
| XM_011521270.2:c.3155A>T | XP_011519572.1:p.Asp1052Val | |
| XM_011521271.2:c.3152A>T | XP_011519573.1:p.Asp1051Val | |
| XM_011521274.2:c.2120A>T | XP_011519576.1:p.Asp707Val | |
| XR_001751104.1:n.3185A>T | ||
| XR_001751105.1:n.3138A>T |