Revel Score:
ENST00000315758 (MANE Select)
0.778
ENST00000443006
0.778
ENST00000432020
0.778
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76064409C>G , CM000669.2:g.76064409C>G | GRCh38 |
| NC_000007.13:g.75693727C>G , CM000669.1:g.75693727C>G | GRCh37 |
| NC_000007.12:g.75531663C>G | NCBI36 |
| NG_052976.1:g.21391C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315758.10:c.704C>G MANE Select | ENSP00000327070.5:p.Thr235Arg | |
| ENST00000315758.9:c.704C>G | ENSP00000327070.5:p.Thr235Arg | |
| ENST00000424167.2:n.280C>G | ||
| ENST00000432020.2:c.578C>G | ENSP00000408649.2:p.Thr193Arg | |
| ENST00000443006.5:c.383C>G | ENSP00000416929.1:p.Thr128Arg | |
| NM_001282403.1:c.578C>G | NP_001269332.1:p.Thr193Arg | |
| NM_001282404.1:c.383C>G | NP_001269333.1:p.Thr128Arg | |
| NM_005918.3:c.704C>G | NP_005909.2:p.Thr235Arg | |
| NM_005918.4:c.704C>G MANE Select | NP_005909.2:p.Thr235Arg | |
| NM_001282403.2:c.578C>G | NP_001269332.1:p.Thr193Arg | |
| NM_001282404.2:c.383C>G | NP_001269333.1:p.Thr128Arg |