Revel Score:
ENST00000371694
0.882
ENST00000371696 (MANE Select)
0.882
ENST00000538402
0.882
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136677047C>G , CM000671.2:g.136677047C>G | GRCh38 |
| NC_000009.11:g.139571499C>G , CM000671.1:g.139571499C>G | GRCh37 |
| NC_000009.10:g.138691320C>G | NCBI36 |
| NG_008090.1:g.15413G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.406G>C MANE Select | ENSP00000360761.2:p.Gly136Arg | |
| ENST00000371694.7:c.406G>C | ENSP00000360759.3:p.Gly136Arg | |
| ENST00000371696.6:c.406G>C | ENSP00000360761.2:p.Gly136Arg | |
| ENST00000470861.1:n.700G>C | ||
| ENST00000472820.1:n.334G>C | ||
| ENST00000538402.1:c.406G>C | ENSP00000438919.1:p.Gly136Arg | |
| NM_001012727.1:c.406G>C | NP_001012745.1:p.Gly136Arg | |
| NM_006412.3:c.406G>C | NP_006403.2:p.Gly136Arg | |
| NM_006412.4:c.406G>C MANE Select | NP_006403.2:p.Gly136Arg | |
| NM_001012727.2:c.406G>C | NP_001012745.1:p.Gly136Arg |