Revel Score:
ENST00000395762 (MANE Select)
0.139
ENST00000543915
0.139
ENST00000380922
0.139
ENST00000170630
0.139
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018074 (SAS)
Exomes Max Group AF
0.00018204 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27362551A>T , CM000678.2:g.27362551A>T | GRCh38 |
| NC_000016.9:g.27373872A>T , CM000678.1:g.27373872A>T | GRCh37 |
| NC_000016.8:g.27281373A>T | NCBI36 |
| NG_012086.1:g.53622A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395762.7:c.1199A>T MANE Select | ENSP00000379111.2:p.Glu400Val | |
| ENST00000170630.6:c.1154A>T | ENSP00000170630.3:p.Glu385Val | |
| ENST00000395762.6:c.1199A>T | ENSP00000379111.2:p.Glu400Val | |
| ENST00000543915.6:c.1199A>T | ENSP00000441667.2:p.Glu400Val | |
| ENST00000565352.1:c.230-1552A>T | ENSP00000461268.1:n.230-1552A>T | |
| ENST00000568746.5:c.*1242A>T | ENSP00000455714.1:n.*1242A>T | |
| NM_000418.3:c.1199A>T | NP_000409.1:p.Glu400Val | |
| NM_001257406.1:c.1199A>T | NP_001244335.1:p.Glu400Val | |
| NM_001257407.1:c.1154A>T | NP_001244336.1:p.Glu385Val | |
| NM_001257997.1:c.719A>T | NP_001244926.1:p.Glu240Val | |
| XM_005255308.2:c.308A>T | XP_005255365.1:p.Glu103Val | |
| XM_006721043.1:c.248A>T | XP_006721106.1:p.Glu83Val | |
| XM_011545825.1:c.1199A>T | XP_011544127.1:p.Glu400Val | |
| XM_011545826.1:c.1199A>T | XP_011544128.1:p.Glu400Val | |
| XM_011545827.1:c.1199A>T | XP_011544129.1:p.Glu400Val | |
| XM_011545828.1:c.932A>T | XP_011544130.1:p.Glu311Val | |
| XM_011545829.1:c.902A>T | XP_011544131.1:p.Glu301Val | |
| XM_011545830.1:c.902A>T | XP_011544132.1:p.Glu301Val | |
| XM_011545831.1:c.902A>T | XP_011544133.1:p.Glu301Val | |
| XM_011545832.1:c.902A>T | XP_011544134.1:p.Glu301Val | |
| XM_011545833.1:c.902A>T | XP_011544135.1:p.Glu301Val | |
| XM_011545834.1:c.776A>T | XP_011544136.1:p.Glu259Val | |
| XM_011545826.2:c.1199A>T | XP_011544128.1:p.Glu400Val | |
| XM_011545827.2:c.1199A>T | XP_011544129.1:p.Glu400Val | |
| XM_011545828.2:c.932A>T | XP_011544130.1:p.Glu311Val | |
| XM_011545830.2:c.902A>T | XP_011544132.1:p.Glu301Val | |
| XM_011545833.2:c.902A>T | XP_011544135.1:p.Glu301Val | |
| XM_011545834.2:c.776A>T | XP_011544136.1:p.Glu259Val | |
| XM_017023211.1:c.*234A>T | XP_016878700.1:n.*234A>T | |
| NM_000418.4:c.1199A>T MANE Select | NP_000409.1:p.Glu400Val | |
| NM_001257406.2:c.1199A>T | NP_001244335.1:p.Glu400Val | |
| NM_001257407.2:c.1154A>T | NP_001244336.1:p.Glu385Val | |
| NM_001257997.2:c.719A>T | NP_001244926.1:p.Glu240Val |