Revel Score:
ENST00000374561 (MANE Select)
0.181
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23559006G>C , CM000663.2:g.23559006G>C | GRCh38 |
| NC_000001.10:g.23885497G>C , CM000663.1:g.23885497G>C | GRCh37 |
| NC_000001.9:g.23758084G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374561.6:c.314C>G MANE Select | ENSP00000363689.5:p.Thr105Ser | |
| ENST00000374561.5:c.314C>G | ENSP00000363689.5:p.Thr105Ser | |
| ENST00000463312.1:n.70C>G | ||
| ENST00000486541.1:n.331C>G | ||
| NM_002167.4:c.314C>G | NP_002158.3:p.Thr105Ser | |
| NM_002167.5:c.314C>G MANE Select | NP_002158.3:p.Thr105Ser |