Revel Score:
ENST00000366560 (MANE Select)
0.822
gnomAD v3:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241500572A>G , CM000663.2:g.241500572A>G | GRCh38 |
| NC_000001.10:g.241663872A>G , CM000663.1:g.241663872A>G | GRCh37 |
| NC_000001.9:g.239730495A>G | NCBI36 |
| NG_012338.1:g.24183T>C , LRG_504:g.24183T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1758T>C | ||
| ENST00000682162.1:c.1284T>C | ENSP00000508203.1:n.1284T>C | |
| ENST00000682567.1:n.4655T>C | ||
| ENST00000683521.1:c.1255T>C | ENSP00000506864.1:p.Ser419Pro | |
| ENST00000684161.1:n.2470T>C | ||
| ENST00000684483.1:c.*651T>C | ENSP00000507894.1:n.*651T>C | |
| ENST00000366560.4:c.1255T>C MANE Select | ENSP00000355518.4:p.Ser419Pro | |
| ENST00000366560.3:c.1255T>C | ENSP00000355518.3:p.Ser419Pro | |
| NM_000143.3:c.1255T>C , LRG_504t1:c.1255T>C | NP_000134.2:p.Ser419Pro | |
| XM_011544132.1:c.1027T>C | XP_011542434.1:p.Ser343Pro | |
| XM_011544132.2:c.1027T>C | XP_011542434.1:p.Ser343Pro | |
| NM_000143.4:c.1255T>C MANE Select | NP_000134.2:p.Ser419Pro |