ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000205402 (MANE Select)
0.670
ENST00000417551
0.670
ENST00000440410
0.670
ENST00000437604
0.670
ENST00000539590
0.670
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107901804A>G , CM000669.2:g.107901804A>G | GRCh38 |
| NC_000007.13:g.107542249A>G , CM000669.1:g.107542249A>G | GRCh37 |
| NC_000007.12:g.107329485A>G | NCBI36 |
| NG_008045.1:g.15664A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.185A>G MANE Select | ENSP00000205402.3:p.Gln62Arg | |
| ENST00000639772.1:c.185A>G | ENSP00000492159.1:p.Gln62Arg | |
| ENST00000205402.9:c.185A>G | ENSP00000205402.3:p.Gln62Arg | |
| ENST00000415325.5:c.119-1674A>G | ENSP00000402593.1:n.119-1674A>G | |
| ENST00000417551.5:c.185A>G | ENSP00000390667.1:p.Gln62Arg | |
| ENST00000437604.6:c.185A>G | ENSP00000387542.2:p.Gln62Arg | |
| ENST00000440410.5:c.185A>G | ENSP00000417016.1:p.Gln62Arg | |
| ENST00000450038.5:c.185A>G | ENSP00000409590.1:p.Gln62Arg | |
| ENST00000451081.5:c.185A>G | ENSP00000388077.1:p.Gln62Arg | |
| ENST00000453354.5:n.250A>G | ||
| ENST00000460577.5:n.219A>G | ||
| ENST00000494441.1:n.330A>G | ||
| NM_000108.4:c.185A>G | NP_000099.2:p.Gln62Arg | |
| NM_001289750.1:c.-30-1674A>G | NP_001276679.1:n.-30-1674A>G | |
| NM_001289751.1:c.185A>G | NP_001276680.1:p.Gln62Arg | |
| NM_001289752.1:c.185A>G | NP_001276681.1:p.Gln62Arg | |
| NM_000108.5:c.185A>G MANE Select | NP_000099.2:p.Gln62Arg |