Revel Score:
ENST00000334529 (MANE Select)
0.014
ENST00000383680
0.014
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.112466178G>C , CM000665.2:g.112466178G>C | GRCh38 |
| NC_000003.11:g.112185025G>C , CM000665.1:g.112185025G>C | GRCh37 |
| NC_000003.10:g.113667715G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334529.10:c.800C>G MANE Select | ENSP00000333919.5:p.Pro267Arg | |
| ENST00000334529.9:c.800C>G | ENSP00000333919.5:p.Pro267Arg | |
| ENST00000383680.4:c.656C>G | ENSP00000373178.4:p.Pro219Arg | |
| ENST00000474965.1:n.304C>G | ||
| NM_001085357.1:c.656C>G | NP_001078826.1:p.Pro219Arg | |
| NM_181780.3:c.800C>G | NP_861445.3:p.Pro267Arg | |
| XM_011512446.1:c.818C>G | XP_011510748.1:p.Pro273Arg | |
| XM_011512447.1:c.818C>G | XP_011510749.1:p.Pro273Arg | |
| XM_011512447.3:c.818C>G | XP_011510749.1:p.Pro273Arg | |
| XM_017005748.2:c.800C>G | XP_016861237.1:p.Pro267Arg | |
| NM_181780.4:c.800C>G MANE Select | NP_861445.4:p.Pro267Arg | |
| NM_001085357.2:c.656C>G | NP_001078826.1:p.Pro219Arg |