Revel Score:
ENST00000405093 (MANE Select)
0.648
ENST00000356287
0.648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23403415C>G , CM000676.2:g.23403415C>G | GRCh38 |
| NC_000014.8:g.23872624C>G , CM000676.1:g.23872624C>G | GRCh37 |
| NC_000014.7:g.22942464C>G | NCBI36 |
| NG_023444.1:g.9863G>C , LRG_389:g.9863G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.831G>C MANE Select | ENSP00000386041.3:p.Gln277His | |
| ENST00000557461.2:n.898G>C | ||
| ENST00000356287.3:c.831G>C | ENSP00000348634.3:p.Gln277His | |
| ENST00000405093.7:c.831G>C | ENSP00000386041.3:p.Gln277His | |
| ENST00000557461.1:n.885G>C | ||
| NM_002471.3:c.831G>C , LRG_389t1:c.831G>C | NP_002462.2:p.Gln277His | |
| NM_002471.4:c.831G>C MANE Select | NP_002462.2:p.Gln277His |