Revel Score:
ENST00000380259
0.549
ENST00000336906 (MANE Select)
0.549
ENST00000380247
0.549
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254725C>G , CM000673.2:g.5254725C>G | GRCh38 |
| NC_000011.9:g.5275955C>G , CM000673.1:g.5275955C>G | GRCh37 |
| NC_000011.8:g.5232531C>G | NCBI36 |
| NG_000007.3:g.42891G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.4G>C MANE Select | ENSP00000338082.4:p.Gly2Arg | |
| ENST00000380252.6:c.-73-211G>C | ENSP00000369602.2:n.-73-211G>C | |
| ENST00000380259.7:c.1550G>C | ENSP00000369609.3:n.1550G>C | |
| ENST00000642908.1:c.4G>C | ENSP00000495346.1:p.Gly2Arg | |
| ENST00000647543.1:c.4G>C | ENSP00000496470.1:p.Gly2Arg | |
| ENST00000336906.4:c.4G>C | ENSP00000338082.4:p.Gly2Arg | |
| ENST00000380252.5:c.63-211G>C | ENSP00000369602.1:n.63-211G>C | |
| ENST00000380259.6:c.4G>C | ENSP00000369609.2:p.Gly2Arg | |
| ENST00000444587.1:c.4G>C | ENSP00000488218.1:p.Gly2Arg | |
| ENST00000620888.4:c.4G>C | ENSP00000479637.1:p.Gly2Arg | |
| ENST00000624109.1:c.354C>G | ENSP00000485458.1:p.Thr118= | |
| NM_000184.2:c.4G>C | NP_000175.1:p.Gly2Arg | |
| NM_000184.3:c.4G>C MANE Select | NP_000175.1:p.Gly2Arg |