Revel Score:
ENST00000262493 (MANE Select)
0.983
ENST00000262494
0.983
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56192353G>C , CM000678.2:g.56192353G>C | GRCh38 |
| NC_000016.9:g.56226265G>C , CM000678.1:g.56226265G>C | GRCh37 |
| NC_000016.8:g.54783766G>C | NCBI36 |
| NG_042800.1:g.6015G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.118G>C | ENSP00000262494.7:p.Gly40Arg | |
| ENST00000262493.12:c.118G>C MANE Select | ENSP00000262493.6:p.Gly40Arg | |
| ENST00000262494.12:c.118G>C | ENSP00000262494.7:p.Gly40Arg | |
| ENST00000563661.2:c.118G>C | ENSP00000492694.1:p.Gly40Arg | |
| ENST00000569295.6:c.118G>C | ENSP00000492271.1:p.Gly40Arg | |
| ENST00000570235.2:c.118G>C | ENSP00000477740.2:p.Gly40Arg | |
| ENST00000638705.1:c.118G>C | ENSP00000491223.1:p.Gly40Arg | |
| ENST00000639770.1:c.85G>C | ENSP00000491999.1:p.Gly29Arg | |
| ENST00000639966.1:n.133G>C | ||
| ENST00000640893.1:c.118G>C | ENSP00000492677.1:p.Gly40Arg | |
| ENST00000675160.1:c.118G>C | ENSP00000502403.1:p.Gly40Arg | |
| ENST00000262493.10:c.118G>C | ENSP00000262493.6:p.Gly40Arg | |
| ENST00000262494.11:c.118G>C | ENSP00000262494.7:p.Gly40Arg | |
| ENST00000563661.1:n.115G>C | ||
| ENST00000569295.5:n.340G>C | ||
| ENST00000570235.1:c.118G>C | ENSP00000477740.1:p.Gly40Arg | |
| NM_020988.2:c.118G>C | NP_066268.1:p.Gly40Arg | |
| NM_138736.2:c.118G>C | NP_620073.2:p.Gly40Arg | |
| NM_020988.3:c.118G>C MANE Select | NP_066268.1:p.Gly40Arg | |
| NM_138736.3:c.118G>C | NP_620073.2:p.Gly40Arg |