Revel Score:
ENST00000533357 (MANE Select)
0.438
ENST00000360451
0.438
ENST00000336559
0.438
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306809T>C , CM000663.2:g.161306809T>C | GRCh38 |
| NC_000001.10:g.161276599T>C , CM000663.1:g.161276599T>C | GRCh37 |
| NC_000001.9:g.159543223T>C | NCBI36 |
| NG_008055.1:g.8164A>G , LRG_256:g.8164A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.347A>G | ENSP00000488104.2:p.Asn116Ser | |
| ENST00000533357.5:c.347A>G MANE Select | ENSP00000432943.1:p.Asn116Ser | |
| ENST00000672287.2:c.-242A>G | ENSP00000499818.2:n.-242A>G | |
| ENST00000672602.2:c.347A>G | ENSP00000500814.2:p.Asn116Ser | |
| ENST00000674861.1:n.410A>G | ||
| ENST00000463290.5:c.347A>G | ENSP00000431538.1:p.Asn116Ser | |
| ENST00000491222.5:c.-242A>G | ENSP00000431441.1:n.-242A>G | |
| ENST00000526189.2:c.91A>G | ||
| ENST00000533357.4:c.347A>G | ENSP00000432943.1:p.Asn116Ser | |
| NM_000530.6:c.347A>G , LRG_256t1:c.347A>G | NP_000521.2:p.Asn116Ser | |
| NM_000530.7:c.347A>G | NP_000521.2:p.Asn116Ser | |
| NM_001315491.1:c.347A>G | NP_001302420.1:p.Asn116Ser | |
| XM_017001321.2:c.377A>G | XP_016856810.1:p.Asn126Ser | |
| NM_000530.8:c.347A>G MANE Select | NP_000521.2:p.Asn116Ser | |
| NM_001315491.2:c.347A>G | NP_001302420.1:p.Asn116Ser |