Revel Score:
ENST00000290705 (MANE Select)
0.079
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56639315C>G , CM000678.2:g.56639315C>G | GRCh38 |
| NC_000016.9:g.56673227C>G , CM000678.1:g.56673227C>G | GRCh37 |
| NC_000016.8:g.55230728C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290705.12:c.80C>G MANE Select | ENSP00000290705.8:p.Thr27Ser | |
| ENST00000622334.1:c.80C>G | ENSP00000478425.1:p.Thr27Ser | |
| NM_005946.2:c.80C>G | NP_005937.2:p.Thr27Ser | |
| NM_005946.3:c.80C>G MANE Select | NP_005937.2:p.Thr27Ser |