Revel Score:
ENST00000326873 (MANE Select)
0.095
ENST00000405031
0.026
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226580A>G , CM000681.2:g.1226580A>G | GRCh38 |
| NC_000019.9:g.1226579A>G , CM000681.1:g.1226579A>G | GRCh37 |
| NC_000019.8:g.1177579A>G | NCBI36 |
| NG_007460.2:g.42174A>G , LRG_319:g.42174A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2836A>G | ENSP00000490268.2:n.*2836A>G | |
| ENST00000585748.3:c.863A>G | ENSP00000477641.2:p.Asn288Ser | |
| ENST00000585851.2:c.1061A>G | ENSP00000467912.2:p.Asn354Ser | |
| ENST00000326873.12:c.1235A>G MANE Select | ENSP00000324856.6:p.Asn412Ser | |
| ENST00000326873.11:c.1235A>G | ENSP00000324856.6:p.Asn412Ser | |
| ENST00000585465.2:n.2968A>G | ||
| ENST00000586243.5:c.1234A>G | ENSP00000467240.2:p.Thr412Ala | |
| ENST00000589152.5:n.1933A>G | ||
| NM_000455.4:c.1235A>G , LRG_319t1:c.1235A>G | NP_000446.1:p.Asn412Ser | |
| XM_005259617.1:c.1230A>G | XP_005259674.1:p.Gln410= | |
| XM_011528209.1:c.1008A>G | XP_011526511.1:p.Gln336= | |
| XM_005259617.3:c.1230A>G | XP_005259674.1:p.Gln410= | |
| XM_011528209.2:c.1008A>G | XP_011526511.1:p.Gln336= | |
| XR_001753738.2:n.2041A>G | ||
| XR_001753740.2:n.2011A>G | ||
| NM_000455.5:c.1235A>G MANE Select | NP_000446.1:p.Asn412Ser |