Revel Score:
ENST00000265148 (MANE Select)
0.314
ENST00000394771
0.314
ENST00000380026
0.314
ENST00000503705
0.314
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003477 (AFR)
Exomes Max Group AF
0.00005865 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103158691C>A , CM000666.2:g.103158691C>A | GRCh38 |
| NC_000004.11:g.104079848C>A , CM000666.1:g.104079848C>A | GRCh37 |
| NC_000004.10:g.104299297C>A | NCBI36 |
| NG_041798.1:g.44719G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265148.9:c.2797G>T MANE Select | ENSP00000265148.3:p.Asp933Tyr | |
| ENST00000380026.8:c.2722G>T | ENSP00000369365.3:p.Asp908Tyr | |
| ENST00000265148.7:c.2797G>T | ENSP00000265148.3:p.Asp933Tyr | |
| ENST00000380026.7:c.2722G>T | ENSP00000369365.3:p.Asp908Tyr | |
| ENST00000503705.5:c.2797G>T | ENSP00000423981.1:p.Asp933Tyr | |
| ENST00000611174.4:c.2797G>T | ENSP00000483542.1:p.Asp933Tyr | |
| NM_001286734.1:c.2722G>T | NP_001273663.1:p.Asp908Tyr | |
| NM_001813.2:c.2797G>T | NP_001804.2:p.Asp933Tyr | |
| XM_011531544.1:c.2722G>T | XP_011529846.1:p.Asp908Tyr | |
| XM_011531545.1:c.2797G>T | XP_011529847.1:p.Asp933Tyr | |
| XM_011531546.1:c.2797G>T | XP_011529848.1:p.Asp933Tyr | |
| XM_011531547.1:c.2797G>T | XP_011529849.1:p.Asp933Tyr | |
| XM_011531548.1:c.2797G>T | XP_011529850.1:p.Asp933Tyr | |
| XM_011531549.1:c.2797G>T | XP_011529851.1:p.Asp933Tyr | |
| XM_011531544.2:c.2722G>T | XP_011529846.1:p.Asp908Tyr | |
| XM_011531545.2:c.2797G>T | XP_011529847.1:p.Asp933Tyr | |
| XM_011531546.3:c.2797G>T | XP_011529848.1:p.Asp933Tyr | |
| XM_011531547.2:c.2797G>T | XP_011529849.1:p.Asp933Tyr | |
| XM_011531548.2:c.2797G>T | XP_011529850.1:p.Asp933Tyr | |
| XM_011531549.2:c.2797G>T | XP_011529851.1:p.Asp933Tyr | |
| XM_017007659.1:c.2797G>T | XP_016863148.1:p.Asp933Tyr | |
| NM_001286734.2:c.2722G>T | NP_001273663.1:p.Asp908Tyr | |
| NM_001813.3:c.2797G>T MANE Select | NP_001804.2:p.Asp933Tyr |