Revel Score:
ENST00000267845 (MANE Select)
0.095
ENST00000543581
0.095
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50263347G>C , CM000677.2:g.50263347G>C | GRCh38 |
| NC_000015.9:g.50555544G>C , CM000677.1:g.50555544G>C | GRCh37 |
| NC_000015.8:g.48342836G>C | NCBI36 |
| NG_027487.1:g.7619C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.92C>G MANE Select | ENSP00000267845.3:p.Thr31Arg | |
| ENST00000267845.7:c.92C>G | ENSP00000267845.3:p.Thr31Arg | |
| ENST00000543581.5:c.92C>G | ENSP00000440252.1:p.Thr31Arg | |
| ENST00000558679.1:n.434C>G | ||
| ENST00000558761.5:n.195C>G | ||
| ENST00000559683.1:c.74C>G | ENSP00000453183.1:p.Thr25Arg | |
| NM_001306146.1:c.92C>G | NP_001293075.1:p.Thr31Arg | |
| NM_002112.3:c.92C>G | NP_002103.2:p.Thr31Arg | |
| XM_011521479.1:c.92C>G | XP_011519781.1:p.Thr31Arg | |
| XM_011521481.1:c.92C>G | XP_011519783.1:p.Thr31Arg | |
| XM_017022094.1:c.92C>G | XP_016877583.1:p.Thr31Arg | |
| XM_017022095.1:c.92C>G | XP_016877584.1:p.Thr31Arg | |
| XM_017022097.1:c.92C>G | XP_016877586.1:p.Thr31Arg | |
| XM_017022099.1:c.92C>G | XP_016877588.1:p.Thr31Arg | |
| NM_002112.4:c.92C>G MANE Select | NP_002103.2:p.Thr31Arg | |
| NM_001306146.2:c.92C>G | NP_001293075.1:p.Thr31Arg |