Revel Score:
ENST00000440501
0.675
ENST00000321666
0.675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28405258C>G , CM000679.2:g.28405258C>G | GRCh38 |
| NC_000017.10:g.26732276C>G , CM000679.1:g.26732276C>G | GRCh37 |
| NC_000017.9:g.23756403C>G | NCBI36 |
| NG_013306.1:g.5953G>C , LRG_183:g.5953G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612814.5:c.439G>C MANE Select | ENSP00000480703.1:p.Gly147Arg | |
| ENST00000578217.1:n.67+423G>C | ||
| ENST00000582590.1:n.493G>C | ||
| ENST00000584426.1:c.175G>C | ENSP00000467416.1:p.Gly59Arg | |
| ENST00000584995.5:c.217G>C | ENSP00000464190.1:p.Gly73Arg | |
| ENST00000612814.4:c.439G>C | ENSP00000480703.1:p.Gly147Arg | |
| ENST00000618626.1:c.439G>C | ENSP00000483652.1:p.Gly147Arg | |
| NM_001242366.2:c.439G>C | NP_001229295.1:p.Gly147Arg | |
| NM_080669.5:c.439G>C | NP_542400.2:p.Gly147Arg | |
| XM_005277786.2:c.439G>C | XP_005277843.1:p.Gly147Arg | |
| XM_005277786.3:c.439G>C | XP_005277843.1:p.Gly147Arg | |
| XM_017024110.1:c.217G>C | XP_016879599.1:p.Gly73Arg | |
| NM_080669.6:c.439G>C MANE Select | NP_542400.2:p.Gly147Arg | |
| NM_001242366.3:c.439G>C | NP_001229295.1:p.Gly147Arg |