Revel Score:
ENST00000369887 (MANE Select)
0.100
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835380T>G , CM000672.2:g.102835380T>G | GRCh38 |
| NC_000010.10:g.104595137T>G , CM000672.1:g.104595137T>G | GRCh37 |
| NC_000010.9:g.104585127T>G | NCBI36 |
| NG_007955.1:g.7154A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.310A>C MANE Select | ENSP00000358903.3:p.Ile104Leu | |
| ENST00000638190.1:c.310A>C | ENSP00000492539.1:p.Ile104Leu | |
| ENST00000638272.1:c.297+1685A>C | ENSP00000491508.1:n.297+1685A>C | |
| ENST00000638971.1:c.310A>C | ENSP00000492313.1:p.Ile104Leu | |
| ENST00000639393.1:c.310A>C | ENSP00000492651.1:p.Ile104Leu | |
| ENST00000640633.1:n.72A>C | ||
| ENST00000369887.3:c.310A>C | ENSP00000358903.3:p.Ile104Leu | |
| ENST00000489268.1:n.564A>C | ||
| NM_000102.3:c.310A>C | NP_000093.1:p.Ile104Leu | |
| NM_000102.4:c.310A>C MANE Select | NP_000093.1:p.Ile104Leu |