Revel Score:
ENST00000380259
0.193
ENST00000336906 (MANE Select)
0.193
ENST00000380247
0.193
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254669A>C , CM000673.2:g.5254669A>C | GRCh38 |
| NC_000011.9:g.5275899A>C , CM000673.1:g.5275899A>C | GRCh37 |
| NC_000011.8:g.5232475A>C | NCBI36 |
| NG_000007.3:g.42947T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.60T>G MANE Select | ENSP00000338082.4:p.Asn20Lys | |
| ENST00000380252.6:c.-73-155T>G | ENSP00000369602.2:n.-73-155T>G | |
| ENST00000380259.7:c.1606T>G | ENSP00000369609.3:n.1606T>G | |
| ENST00000642908.1:c.60T>G | ENSP00000495346.1:p.Asn20Lys | |
| ENST00000647543.1:c.60T>G | ENSP00000496470.1:p.Asn20Lys | |
| ENST00000336906.4:c.60T>G | ENSP00000338082.4:p.Asn20Lys | |
| ENST00000380252.5:c.63-155T>G | ENSP00000369602.1:n.63-155T>G | |
| ENST00000380259.6:c.60T>G | ENSP00000369609.2:p.Asn20Lys | |
| ENST00000444587.1:c.54+6T>G | ENSP00000488218.1:n.54+6T>G | |
| ENST00000620888.4:c.60T>G | ENSP00000479637.1:p.Asn20Lys | |
| ENST00000624109.1:c.298A>C | ENSP00000485458.1:p.Ile100Leu | |
| NM_000184.2:c.60T>G | NP_000175.1:p.Asn20Lys | |
| NM_000184.3:c.60T>G MANE Select | NP_000175.1:p.Asn20Lys |