Revel Score:
ENST00000394329 (MANE Select)
0.532
ENST00000335110
0.532
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125451587G>C , CM000666.2:g.125451587G>C | GRCh38 |
| NC_000004.11:g.126372742G>C , CM000666.1:g.126372742G>C | GRCh37 |
| NC_000004.10:g.126592192G>C | NCBI36 |
| NG_033865.1:g.140176G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394329.9:c.10577G>C MANE Select | ENSP00000377862.4:p.Gly3526Ala | |
| ENST00000674496.2:c.5348G>C | ENSP00000501473.2:p.Gly1783Ala | |
| ENST00000335110.5:c.5465G>C | ENSP00000335169.5:p.Gly1822Ala | |
| ENST00000394329.7:c.10571G>C | ENSP00000377862.3:p.Gly3524Ala | |
| NM_001291285.1:c.10577G>C | NP_001278214.1:p.Gly3526Ala | |
| NM_001291303.1:c.10577G>C | NP_001278232.1:p.Gly3526Ala | |
| NM_024582.4:c.10571G>C | NP_078858.4:p.Gly3524Ala | |
| XM_011532236.1:c.10577G>C | XP_011530538.1:p.Gly3526Ala | |
| XM_011532237.1:c.5348G>C | XP_011530539.1:p.Gly1783Ala | |
| XM_011532236.2:c.10577G>C | XP_011530538.1:p.Gly3526Ala | |
| XM_011532237.2:c.5348G>C | XP_011530539.1:p.Gly1783Ala | |
| NM_001291285.2:c.10577G>C | NP_001278214.1:p.Gly3526Ala | |
| NM_001291303.3:c.10577G>C MANE Select | NP_001278232.1:p.Gly3526Ala | |
| NM_024582.5:c.10571G>C | NP_078858.4:p.Gly3524Ala | |
| NM_001291285.3:c.10577G>C | NP_001278214.1:p.Gly3526Ala | |
| NM_024582.6:c.10571G>C | NP_078858.4:p.Gly3524Ala |