Revel Score:
ENST00000256646 (MANE Select)
0.352
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119948467G>A , CM000663.2:g.119948467G>A | GRCh38 |
| NC_000001.10:g.120491090G>A , CM000663.1:g.120491090G>A | GRCh37 |
| NC_000001.9:g.120292613G>A | NCBI36 |
| NG_008163.1:g.126187C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.2699C>T MANE Select | ENSP00000256646.2:p.Pro900Leu | |
| ENST00000256646.6:c.2699C>T | ENSP00000256646.2:p.Pro900Leu | |
| NM_001200001.1:c.2699C>T | NP_001186930.1:p.Pro900Leu | |
| NM_024408.3:c.2699C>T | NP_077719.2:p.Pro900Leu | |
| XM_005270901.2:c.2582C>T | XP_005270958.1:p.Pro861Leu | |
| XM_011541519.1:c.2687C>T | XP_011539821.1:p.Pro896Leu | |
| XM_011541520.1:c.2582C>T | XP_011539822.1:p.Pro861Leu | |
| NM_024408.4:c.2699C>T MANE Select | NP_077719.2:p.Pro900Leu | |
| NM_001200001.2:c.2699C>T | NP_001186930.1:p.Pro900Leu |