Revel Score:
ENST00000375815
0.976
ENST00000375820 (MANE Select)
0.976
ENST00000397198
0.976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110166277C>G , CM000675.2:g.110166277C>G | GRCh38 |
| NC_000013.10:g.110818624C>G , CM000675.1:g.110818624C>G | GRCh37 |
| NC_000013.9:g.109616625C>G | NCBI36 |
| NG_011544.2:g.145873G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3976G>C MANE Select | ENSP00000364979.4:p.Gly1326Arg | |
| ENST00000650424.1:c.132G>C | ||
| ENST00000375820.8:c.3976G>C | ENSP00000364979.4:p.Gly1326Arg | |
| NM_001845.5:c.3976G>C | NP_001836.3:p.Gly1326Arg | |
| XM_011521048.1:c.3784G>C | XP_011519350.1:p.Gly1262Arg | |
| XM_011521048.2:c.3784G>C | XP_011519350.1:p.Gly1262Arg | |
| NM_001845.6:c.3976G>C MANE Select | NP_001836.3:p.Gly1326Arg |