Revel Score:
ENST00000298049
0.809
ENST00000217182 (MANE Select)
0.809
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63493155C>G , CM000682.2:g.63493155C>G | GRCh38 |
| NC_000020.10:g.62124508C>G , CM000682.1:g.62124508C>G | GRCh37 |
| NC_000020.9:g.61594952C>G | NCBI36 |
| NG_034083.1:g.11161G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706948.1:c.754G>C | ENSP00000516668.1:p.Asp252His | |
| ENST00000706949.1:c.754G>C | ENSP00000516669.1:p.Asp252His | |
| ENST00000217182.6:c.754G>C MANE Select | ENSP00000217182.3:p.Asp252His | |
| ENST00000298049.12:c.754G>C | ENSP00000298049.8:p.Asp252His | |
| ENST00000645586.1:n.3323G>C | ||
| ENST00000675519.1:c.*626G>C | ENSP00000501859.1:n.*626G>C | |
| ENST00000217182.4:c.754G>C | ENSP00000217182.3:p.Asp252His | |
| ENST00000298049.11:c.754G>C | ENSP00000298049.7:p.Asp252His | |
| NM_001958.3:c.754G>C | NP_001949.1:p.Asp252His | |
| NM_001958.4:c.754G>C | NP_001949.1:p.Asp252His | |
| NM_001958.5:c.754G>C MANE Select | NP_001949.1:p.Asp252His |