Revel Score:
ENST00000395388 (MANE Select)
0.233
ENST00000374982
0.233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443782G>C , CM000668.2:g.32443782G>C | GRCh38 |
| NC_000006.11:g.32411559G>C , CM000668.1:g.32411559G>C | GRCh37 |
| NC_000006.10:g.32519537G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.637G>C MANE Select | ENSP00000378786.2:p.Glu213Gln | |
| ENST00000374982.5:c.562G>C | ENSP00000364121.5:p.Glu188Gln | |
| ENST00000395388.6:c.637G>C | ENSP00000378786.2:p.Glu213Gln | |
| NM_019111.4:c.637G>C | NP_061984.2:p.Glu213Gln | |
| NM_019111.5:c.637G>C MANE Select | NP_061984.2:p.Glu213Gln |