Revel Score:
ENST00000155840 (MANE Select)
0.885
ENST00000335475
0.885
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2587615T>C , CM000673.2:g.2587615T>C | GRCh38 |
| NC_000011.9:g.2608845T>C , CM000673.1:g.2608845T>C | GRCh37 |
| NC_000011.8:g.2565421T>C | NCBI36 |
| NG_008935.1:g.147625T>C , LRG_287:g.147625T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.817T>C | ENSP00000434560.2:p.Trp273Arg | |
| ENST00000646564.2:c.634T>C | ENSP00000495806.2:p.Trp212Arg | |
| ENST00000155840.12:c.1174T>C MANE Select | ENSP00000155840.2:p.Trp392Arg | |
| ENST00000335475.6:c.793T>C | ENSP00000334497.5:p.Trp265Arg | |
| ENST00000646564.1:c.280T>C | ENSP00000495806.1:p.Trp94Arg | |
| ENST00000155840.9:c.1174T>C | ENSP00000155840.2:p.Trp392Arg | |
| ENST00000335475.5:c.793T>C | ENSP00000334497.5:p.Trp265Arg | |
| NM_000218.2:c.1174T>C , LRG_287t1:c.1174T>C | NP_000209.2:p.Trp392Arg | |
| NM_181798.1:c.793T>C , LRG_287t2:c.793T>C | NP_861463.1:p.Trp265Arg | |
| NM_000218.3:c.1174T>C MANE Select | NP_000209.2:p.Trp392Arg |