Revel Score:
ENST00000299314 (MANE Select)
0.632
ENST00000549940
0.632
ENST00000552681
0.632
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000294 (NFE)
Exomes Max Group AF
0.00000312 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786014T>A , CM000674.2:g.101786014T>A | GRCh38 |
| NC_000012.11:g.102179792T>A , CM000674.1:g.102179792T>A | GRCh37 |
| NC_000012.10:g.100703923T>A | NCBI36 |
| NG_021243.1:g.49854A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.569A>T MANE Select | ENSP00000299314.7:p.Asp190Val | |
| ENST00000299314.11:c.569A>T | ENSP00000299314.7:p.Asp190Val | |
| ENST00000549940.5:c.569A>T | ENSP00000449150.1:p.Asp190Val | |
| ENST00000550352.1:n.363A>T | ||
| ENST00000552681.1:c.203A>T | ENSP00000449217.1:p.Asp68Val | |
| NM_024312.4:c.569A>T | NP_077288.2:p.Asp190Val | |
| XM_006719593.2:c.569A>T | XP_006719656.1:p.Asp190Val | |
| XM_011538731.1:c.488A>T | XP_011537033.1:p.Asp163Val | |
| XM_006719593.3:c.569A>T | XP_006719656.1:p.Asp190Val | |
| XM_011538731.2:c.488A>T | XP_011537033.1:p.Asp163Val | |
| XM_017019961.1:c.353A>T | XP_016875450.1:p.Asp118Val | |
| XM_017019962.2:c.-782A>T | XP_016875451.1:n.-782A>T | |
| NM_024312.5:c.569A>T MANE Select | NP_077288.2:p.Asp190Val |