Revel Score:
ENST00000426263 (MANE Select)
0.590
ENST00000372501
0.590
ENST00000397019
0.590
ENST00000415851
0.590
ENST00000372500
0.590
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42943239T>C , CM000663.2:g.42943239T>C | GRCh38 |
| NC_000001.10:g.43408910T>C , CM000663.1:g.43408910T>C | GRCh37 |
| NC_000001.9:g.43181497T>C | NCBI36 |
| NG_008232.1:g.20938A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.101A>G MANE Select | ENSP00000416293.2:p.Asn34Ser | |
| ENST00000674765.1:c.101A>G | ENSP00000501811.1:p.Asn34Ser | |
| ENST00000675112.1:n.124A>G | ||
| ENST00000372500.4:c.19-12033A>G | ENSP00000361578.4:n.19-12033A>G | |
| ENST00000415851.6:n.318A>G | ||
| ENST00000426263.7:c.101A>G | ENSP00000416293.2:p.Asn34Ser | |
| ENST00000625233.2:n.309A>G | ||
| ENST00000628173.1:n.320A>G | ||
| ENST00000630287.2:c.101A>G | ENSP00000486694.1:p.Asn34Ser | |
| ENST00000630821.1:n.318A>G | ||
| NM_006516.2:c.101A>G | NP_006507.2:p.Asn34Ser | |
| NM_006516.3:c.101A>G | NP_006507.2:p.Asn34Ser | |
| NM_006516.4:c.101A>G MANE Select | NP_006507.2:p.Asn34Ser |