Revel Score:
ENST00000294008 (MANE Select)
0.013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3608892C>G , CM000678.2:g.3608892C>G | GRCh38 |
| NC_000016.9:g.3658893C>G , CM000678.1:g.3658893C>G | GRCh37 |
| NC_000016.8:g.3598894C>G | NCBI36 |
| NG_028123.1:g.7693G>C , LRG_503:g.7693G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697859.1:n.695G>C | ||
| ENST00000294008.4:c.73G>C MANE Select | ENSP00000294008.3:p.Gly25Arg | |
| ENST00000294008.3:c.73G>C | ENSP00000294008.3:p.Gly25Arg | |
| ENST00000466154.5:n.368G>C | ||
| ENST00000486524.1:n.701G>C | ||
| NM_032444.2:c.73G>C , LRG_503t1:c.73G>C | NP_115820.2:p.Gly25Arg | |
| XM_011522715.1:c.73G>C | XP_011521017.1:p.Gly25Arg | |
| NM_032444.3:c.73G>C | NP_115820.2:p.Gly25Arg | |
| XM_011522715.3:c.73G>C | XP_011521017.1:p.Gly25Arg | |
| XM_024450471.1:c.73G>C | XP_024306239.1:p.Gly25Arg | |
| NM_032444.4:c.73G>C MANE Select | NP_115820.2:p.Gly25Arg |