Revel Score:
ENST00000302118 (MANE Select)
0.772
ENST00000543384
0.772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55057454G>C , CM000663.2:g.55057454G>C | GRCh38 |
| NC_000001.10:g.55523127G>C , CM000663.1:g.55523127G>C | GRCh37 |
| NC_000001.9:g.55295715G>C | NCBI36 |
| NG_009061.1:g.22908G>C , LRG_275:g.22908G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1120G>C | ENSP00000501161.2:p.Asp374His | |
| ENST00000710286.1:c.1477G>C | ENSP00000518176.1:p.Asp493His | |
| ENST00000673903.1:c.745G>C | ENSP00000501257.1:p.Asp249His | |
| ENST00000302118.5:c.1120G>C MANE Select | ENSP00000303208.5:p.Asp374His | |
| ENST00000490692.1:n.1844G>C | ||
| NM_174936.3:c.1120G>C , LRG_275t1:c.1120G>C | NP_777596.2:p.Asp374His | |
| NR_110451.1:n.779G>C | ||
| XM_011541193.1:c.241G>C | XP_011539495.1:p.Asp81His | |
| NM_174936.4:c.1120G>C MANE Select | NP_777596.2:p.Asp374His | |
| NR_110451.2:n.779G>C |