Revel Score:
ENST00000554357
0.258
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.0000099 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92006371A>G , CM000676.2:g.92006371A>G | GRCh38 |
| NC_000014.8:g.92472715A>G , CM000676.1:g.92472715A>G | GRCh37 |
| NC_000014.7:g.91542468A>G | NCBI36 |
| NG_016970.1:g.38689T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.1605T>C MANE Select | ENSP00000267622.4:p.Asp535= | |
| ENST00000554357.5:c.751T>C | ||
| NM_004239.3:c.1605T>C | NP_004230.2:p.Asp535= | |
| XM_005268214.2:c.279T>C | XP_005268271.1:p.Asp93= | |
| XM_005268215.2:c.1527+1269T>C | XP_005268272.1:n.1527+1269T>C | |
| XM_006720321.2:c.1602T>C | XP_006720384.1:p.Asp534= | |
| XM_011537361.1:c.1605T>C | XP_011535663.1:p.Asp535= | |
| XR_943560.1:n.2060T>C | ||
| NM_001321851.1:c.1602T>C | NP_001308780.1:p.Asp534= | |
| NM_004239.4:c.1605T>C MANE Select | NP_004230.2:p.Asp535= | |
| XM_017021787.2:c.900T>C | XP_016877276.1:p.Asp300= | |
| XM_017021788.2:c.279T>C | XP_016877277.1:p.Asp93= | |
| XR_001750598.2:n.2054T>C | ||
| XR_943560.2:n.2054T>C |