Revel Score:
ENST00000395762 (MANE Select)
0.040
ENST00000543915
0.040
ENST00000380922
0.040
ENST00000170630
0.040
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27363079A>T , CM000678.2:g.27363079A>T | GRCh38 |
| NC_000016.9:g.27374400A>T , CM000678.1:g.27374400A>T | GRCh37 |
| NC_000016.8:g.27281901A>T | NCBI36 |
| NG_012086.1:g.54150A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395762.7:c.1727A>T MANE Select | ENSP00000379111.2:p.Gln576Leu | |
| ENST00000170630.6:c.1682A>T | ENSP00000170630.3:p.Gln561Leu | |
| ENST00000395762.6:c.1727A>T | ENSP00000379111.2:p.Gln576Leu | |
| ENST00000543915.6:c.1727A>T | ENSP00000441667.2:p.Gln576Leu | |
| ENST00000565352.1:c.230-1024A>T | ENSP00000461268.1:n.230-1024A>T | |
| ENST00000568746.5:c.*1770A>T | ENSP00000455714.1:n.*1770A>T | |
| NM_000418.3:c.1727A>T | NP_000409.1:p.Gln576Leu | |
| NM_001257406.1:c.1727A>T | NP_001244335.1:p.Gln576Leu | |
| NM_001257407.1:c.1682A>T | NP_001244336.1:p.Gln561Leu | |
| NM_001257997.1:c.1247A>T | NP_001244926.1:p.Gln416Leu | |
| XM_005255308.2:c.836A>T | XP_005255365.1:p.Gln279Leu | |
| XM_006721043.1:c.776A>T | XP_006721106.1:p.Gln259Leu | |
| XM_011545825.1:c.1727A>T | XP_011544127.1:p.Gln576Leu | |
| XM_011545826.1:c.1727A>T | XP_011544128.1:p.Gln576Leu | |
| XM_011545827.1:c.1727A>T | XP_011544129.1:p.Gln576Leu | |
| XM_011545828.1:c.1460A>T | XP_011544130.1:p.Gln487Leu | |
| XM_011545829.1:c.1430A>T | XP_011544131.1:p.Gln477Leu | |
| XM_011545830.1:c.1430A>T | XP_011544132.1:p.Gln477Leu | |
| XM_011545831.1:c.1430A>T | XP_011544133.1:p.Gln477Leu | |
| XM_011545832.1:c.1430A>T | XP_011544134.1:p.Gln477Leu | |
| XM_011545833.1:c.1430A>T | XP_011544135.1:p.Gln477Leu | |
| XM_011545834.1:c.1304A>T | XP_011544136.1:p.Gln435Leu | |
| XM_011545826.2:c.1727A>T | XP_011544128.1:p.Gln576Leu | |
| XM_011545827.2:c.1727A>T | XP_011544129.1:p.Gln576Leu | |
| XM_011545828.2:c.1460A>T | XP_011544130.1:p.Gln487Leu | |
| XM_011545830.2:c.1430A>T | XP_011544132.1:p.Gln477Leu | |
| XM_011545833.2:c.1430A>T | XP_011544135.1:p.Gln477Leu | |
| XM_011545834.2:c.1304A>T | XP_011544136.1:p.Gln435Leu | |
| NM_000418.4:c.1727A>T MANE Select | NP_000409.1:p.Gln576Leu | |
| NM_001257406.2:c.1727A>T | NP_001244335.1:p.Gln576Leu | |
| NM_001257407.2:c.1682A>T | NP_001244336.1:p.Gln561Leu | |
| NM_001257997.2:c.1247A>T | NP_001244926.1:p.Gln416Leu |