Revel Score:
ENST00000369708
0.087
ENST00000338595 (MANE Select)
0.087
ENST00000401888
0.087
ENST00000369707
0.087
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104279427A>T , CM000672.2:g.104279427A>T | GRCh38 |
| NC_000010.10:g.106039185A>T , CM000672.1:g.106039185A>T | GRCh37 |
| NC_000010.9:g.106029175A>T | NCBI36 |
| NG_023363.1:g.15555A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338595.7:c.424A>T MANE Select | ENSP00000345023.1:p.Asn142Tyr | |
| ENST00000338595.6:c.424A>T | ENSP00000345023.1:p.Asn142Tyr | |
| ENST00000369707.2:c.340A>T | ENSP00000358721.1:p.Asn114Tyr | |
| ENST00000450629.6:c.366+1311A>T | ENSP00000390986.2:n.366+1311A>T | |
| ENST00000473401.5:n.275+1311A>T | ||
| ENST00000477078.2:n.311A>T | ||
| NM_001191013.1:c.366+1311A>T | NP_001177942.1:n.366+1311A>T | |
| NM_001191014.1:c.340A>T | NP_001177943.1:p.Asn114Tyr | |
| NM_001191015.1:c.282+1311A>T | NP_001177944.1:n.282+1311A>T | |
| NM_183239.1:c.424A>T | NP_899062.1:p.Asn142Tyr | |
| XM_006717624.2:c.424A>T | XP_006717687.1:p.Asn142Tyr | |
| XM_011539270.1:c.424A>T | XP_011537572.1:p.Asn142Tyr | |
| XM_011539271.1:c.424A>T | XP_011537573.1:p.Asn142Tyr | |
| XM_011539272.1:c.424A>T | XP_011537574.1:p.Asn142Tyr | |
| XM_011539273.1:c.366+1311A>T | XP_011537575.1:n.366+1311A>T | |
| XM_006717624.3:c.424A>T | XP_006717687.1:p.Asn142Tyr | |
| XM_011539270.3:c.424A>T | XP_011537572.1:p.Asn142Tyr | |
| XM_011539271.2:c.424A>T | XP_011537573.1:p.Asn142Tyr | |
| XM_011539272.3:c.424A>T | XP_011537574.1:p.Asn142Tyr | |
| XM_011539273.2:c.366+1311A>T | XP_011537575.1:n.366+1311A>T | |
| XM_017015670.2:c.366+1311A>T | XP_016871159.1:n.366+1311A>T | |
| XM_017015671.1:c.366+1311A>T | XP_016871160.1:n.366+1311A>T | |
| NM_183239.2:c.424A>T MANE Select | NP_899062.1:p.Asn142Tyr | |
| NM_001191014.2:c.340A>T | NP_001177943.1:p.Asn114Tyr | |
| NM_001191015.2:c.282+1311A>T | NP_001177944.1:n.282+1311A>T | |
| NM_001191013.2:c.366+1311A>T | NP_001177942.1:n.366+1311A>T |