Revel Score:
ENST00000228606 (MANE Select)
0.946
ENST00000546567
0.946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764755G>C , CM000674.2:g.57764755G>C | GRCh38 |
| NC_000012.11:g.58158538G>C , CM000674.1:g.58158538G>C | GRCh37 |
| NC_000012.10:g.56444805G>C | NCBI36 |
| NG_007076.1:g.7439C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1043C>G | ENSP00000518840.1:p.Thr348Arg | |
| ENST00000713545.1:c.1020C>G | ENSP00000518841.1:p.His340Gln | |
| ENST00000228606.9:c.962C>G MANE Select | ENSP00000228606.4:p.Thr321Arg | |
| ENST00000228606.8:c.962C>G | ENSP00000228606.4:p.Thr321Arg | |
| ENST00000546567.5:c.257C>G | ENSP00000449472.1:p.Thr86Arg | |
| ENST00000547344.5:n.1101C>G | ||
| ENST00000547451.1:n.762C>G | ||
| NM_000785.3:c.962C>G | NP_000776.1:p.Thr321Arg | |
| NM_000785.4:c.962C>G MANE Select | NP_000776.1:p.Thr321Arg |