Revel Score:
ENST00000374561 (MANE Select)
0.039
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23559007T>A , CM000663.2:g.23559007T>A | GRCh38 |
| NC_000001.10:g.23885498T>A , CM000663.1:g.23885498T>A | GRCh37 |
| NC_000001.9:g.23758085T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374561.6:c.313A>T MANE Select | ENSP00000363689.5:p.Thr105Ser | |
| ENST00000374561.5:c.313A>T | ENSP00000363689.5:p.Thr105Ser | |
| ENST00000463312.1:n.69A>T | ||
| ENST00000486541.1:n.330A>T | ||
| NM_002167.4:c.313A>T | NP_002158.3:p.Thr105Ser | |
| NM_002167.5:c.313A>T MANE Select | NP_002158.3:p.Thr105Ser |