Revel Score:
ENST00000369887 (MANE Select)
0.214
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835378G>C , CM000672.2:g.102835378G>C | GRCh38 |
| NC_000010.10:g.104595135G>C , CM000672.1:g.104595135G>C | GRCh37 |
| NC_000010.9:g.104585125G>C | NCBI36 |
| NG_007955.1:g.7156C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.312C>G MANE Select | ENSP00000358903.3:p.Ile104Met | |
| ENST00000638190.1:c.312C>G | ENSP00000492539.1:p.Ile104Met | |
| ENST00000638272.1:c.297+1687C>G | ENSP00000491508.1:n.297+1687C>G | |
| ENST00000638971.1:c.312C>G | ENSP00000492313.1:p.Ile104Met | |
| ENST00000639393.1:c.312C>G | ENSP00000492651.1:p.Ile104Met | |
| ENST00000640633.1:n.74C>G | ||
| ENST00000369887.3:c.312C>G | ENSP00000358903.3:p.Ile104Met | |
| ENST00000489268.1:n.566C>G | ||
| NM_000102.3:c.312C>G | NP_000093.1:p.Ile104Met | |
| NM_000102.4:c.312C>G MANE Select | NP_000093.1:p.Ile104Met |