Revel Score:
ENST00000345060 (MANE Select)
0.911
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965610T>C , CM000670.2:g.37965610T>C | GRCh38 |
| NC_000008.10:g.37823128T>C , CM000670.1:g.37823128T>C | GRCh37 |
| NC_000008.9:g.37942285T>C | NCBI36 |
| NG_011936.1:g.6057A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.860A>G MANE Select | ENSP00000343782.3:p.Glu287Gly | |
| ENST00000520341.2:n.988A>G | ||
| ENST00000647937.1:c.344A>G | ENSP00000497740.1:p.Glu115Gly | |
| ENST00000345060.4:c.860A>G | ENSP00000343782.3:p.Glu287Gly | |
| ENST00000520341.1:n.135A>G | ||
| ENST00000614635.1:c.860A>G | ENSP00000480325.1:p.Glu287Gly | |
| NM_000025.2:c.860A>G | NP_000016.1:p.Glu287Gly | |
| NM_000025.3:c.860A>G MANE Select | NP_000016.1:p.Glu287Gly |