Revel Score:
ENST00000360467 (MANE Select)
0.969
ENST00000257309
0.969
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110492105G>C , CM000675.2:g.110492105G>C | GRCh38 |
| NC_000013.10:g.111144452G>C , CM000675.1:g.111144452G>C | GRCh37 |
| NC_000013.9:g.109942453G>C | NCBI36 |
| NG_032137.1:g.189822G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.3490G>C MANE Select | ENSP00000353654.5:p.Gly1164Arg | |
| ENST00000650225.1:n.1145G>C | ||
| ENST00000360467.5:c.3490G>C | ENSP00000353654.5:p.Gly1164Arg | |
| NM_001846.2:c.3490G>C | NP_001837.2:p.Gly1164Arg | |
| NM_001846.3:c.3490G>C | NP_001837.2:p.Gly1164Arg | |
| NM_001846.4:c.3490G>C MANE Select | NP_001837.2:p.Gly1164Arg |