Revel Score:
ENST00000326873 (MANE Select)
0.459
ENST00000405031
0.459
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226556C>A , CM000681.2:g.1226556C>A | GRCh38 |
| NC_000019.9:g.1226555C>A , CM000681.1:g.1226555C>A | GRCh37 |
| NC_000019.8:g.1177555C>A | NCBI36 |
| NG_007460.2:g.42150C>A , LRG_319:g.42150C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2812C>A | ENSP00000490268.2:n.*2812C>A | |
| ENST00000585748.3:c.839C>A | ENSP00000477641.2:p.Ser280Tyr | |
| ENST00000585851.2:c.1037C>A | ENSP00000467912.2:p.Ser346Tyr | |
| ENST00000326873.12:c.1211C>A MANE Select | ENSP00000324856.6:p.Ser404Tyr | |
| ENST00000326873.11:c.1211C>A | ENSP00000324856.6:p.Ser404Tyr | |
| ENST00000585465.2:n.2944C>A | ||
| ENST00000586243.5:c.1211C>A | ENSP00000467240.2:p.Ser404Tyr | |
| ENST00000589152.5:n.1909C>A | ||
| NM_000455.4:c.1211C>A , LRG_319t1:c.1211C>A | NP_000446.1:p.Ser404Tyr | |
| XM_005259617.1:c.1206C>A | XP_005259674.1:p.Ile402= | |
| XM_011528209.1:c.984C>A | XP_011526511.1:p.Ile328= | |
| XM_005259617.3:c.1206C>A | XP_005259674.1:p.Ile402= | |
| XM_011528209.2:c.984C>A | XP_011526511.1:p.Ile328= | |
| XR_001753738.2:n.2017C>A | ||
| XR_001753740.2:n.1987C>A | ||
| NM_000455.5:c.1211C>A MANE Select | NP_000446.1:p.Ser404Tyr |