Revel Score:
ENST00000357780 (MANE Select)
0.041
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116820918C>G , CM000673.2:g.116820918C>G | GRCh38 |
| NC_000011.9:g.116691634C>G , CM000673.1:g.116691634C>G | GRCh37 |
| NC_000011.8:g.116196844C>G | NCBI36 |
| NG_012044.1:g.7378G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357780.5:c.1140G>C MANE Select | ENSP00000350425.3:p.Gln380His | |
| ENST00000357780.4:c.1140G>C | ENSP00000350425.3:p.Gln380His | |
| NM_000482.3:c.1140G>C | NP_000473.2:p.Gln380His | |
| NM_000482.4:c.1140G>C MANE Select | NP_000473.2:p.Gln380His |