Revel Score:
ENST00000301633
0.008
ENST00000350051 (MANE Select)
0.008
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223510G>C , CM000679.2:g.78223510G>C | GRCh38 |
| NC_000017.10:g.76219591G>C , CM000679.1:g.76219591G>C | GRCh37 |
| NC_000017.9:g.73731186G>C | NCBI36 |
| NG_029069.1:g.14315G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.385G>C MANE Select | ENSP00000324180.4:p.Glu129Gln | |
| ENST00000301633.8:c.454G>C | ENSP00000301633.3:p.Glu152Gln | |
| ENST00000350051.7:c.385G>C | ENSP00000324180.4:p.Glu129Gln | |
| ENST00000374948.6:c.267G>C | ENSP00000364086.1:p.Arg89= | |
| ENST00000589892.1:n.401G>C | ||
| ENST00000590925.6:c.*187G>C | ENSP00000467336.1:n.*187G>C | |
| NM_001012270.1:c.267G>C | NP_001012270.1:p.Arg89= | |
| NM_001012271.1:c.454G>C | NP_001012271.1:p.Glu152Gln | |
| NM_001168.2:c.385G>C | NP_001159.2:p.Glu129Gln | |
| XR_243654.3:n.587G>C | ||
| XR_934452.1:n.656G>C | ||
| XR_243654.5:n.587G>C | ||
| XR_934452.3:n.656G>C | ||
| NM_001168.3:c.385G>C MANE Select | NP_001159.2:p.Glu129Gln | |
| NM_001012270.2:c.267G>C | NP_001012270.1:p.Arg89= | |
| NM_001012271.2:c.454G>C | NP_001012271.1:p.Glu152Gln |