Revel Score:
ENST00000215832 (MANE Select)
0.680
ENST00000415911
0.680
ENST00000398822
0.680
ENST00000544786
0.680
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21805938C>G , CM000684.2:g.21805938C>G | GRCh38 |
| NC_000022.10:g.22160227C>G , CM000684.1:g.22160227C>G | GRCh37 |
| NC_000022.9:g.20490227C>G | NCBI36 |
| NG_023054.2:g.66743G>C , LRG_786:g.66743G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215832.11:c.404G>C MANE Select | ENSP00000215832.7:p.Arg135Thr | |
| ENST00000215832.10:c.404G>C | ENSP00000215832.6:p.Arg135Thr | |
| ENST00000398822.7:c.404G>C | ENSP00000381803.3:p.Arg135Thr | |
| ENST00000544786.1:c.404G>C | ENSP00000440842.1:p.Arg135Thr | |
| NM_002745.4:c.404G>C , LRG_786t1:c.404G>C | NP_002736.3:p.Arg135Thr | |
| NM_138957.3:c.404G>C , LRG_786t2:c.404G>C | NP_620407.1:p.Arg135Thr | |
| NM_002745.5:c.404G>C MANE Select | NP_002736.3:p.Arg135Thr |