Revel Score:
ENST00000369887 (MANE Select)
0.297
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835292G>C , CM000672.2:g.102835292G>C | GRCh38 |
| NC_000010.10:g.104595049G>C , CM000672.1:g.104595049G>C | GRCh37 |
| NC_000010.9:g.104585039G>C | NCBI36 |
| NG_007955.1:g.7242C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.398C>G MANE Select | ENSP00000358903.3:p.Ala133Gly | |
| ENST00000638190.1:c.398C>G | ENSP00000492539.1:p.Ala133Gly | |
| ENST00000638272.1:c.297+1773C>G | ENSP00000491508.1:n.297+1773C>G | |
| ENST00000638971.1:c.398C>G | ENSP00000492313.1:p.Ala133Gly | |
| ENST00000639393.1:c.398C>G | ENSP00000492651.1:p.Ala133Gly | |
| ENST00000640633.1:n.160C>G | ||
| ENST00000369887.3:c.398C>G | ENSP00000358903.3:p.Ala133Gly | |
| ENST00000489268.1:n.652C>G | ||
| NM_000102.3:c.398C>G | NP_000093.1:p.Ala133Gly | |
| NM_000102.4:c.398C>G MANE Select | NP_000093.1:p.Ala133Gly |