Revel Score:
ENST00000316623 (MANE Select)
0.933
ENST00000389087
0.933
ENST00000544030
0.933
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48437039C>T , CM000677.2:g.48437039C>T | GRCh38 |
| NC_000015.9:g.48729236C>T , CM000677.1:g.48729236C>T | GRCh37 |
| NC_000015.8:g.46516528C>T | NCBI36 |
| NG_008805.2:g.213750G>A , LRG_778:g.213750G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6418G>A | ENSP00000453958.2:p.Gly2140Arg | |
| ENST00000674301.2:c.6418G>A | ENSP00000501333.2:p.Gly2140Arg | |
| ENST00000682170.1:n.27G>A | ||
| ENST00000316623.10:c.6418G>A MANE Select | ENSP00000325527.5:p.Gly2140Arg | |
| ENST00000674301.1:c.1417G>A | ENSP00000501333.1:p.Gly473Arg | |
| ENST00000316623.9:c.6418G>A | ENSP00000325527.5:p.Gly2140Arg | |
| ENST00000537463.6:c.*2181G>A | ENSP00000440294.2:n.*2181G>A | |
| ENST00000559133.5:c.1725G>A | ||
| NM_000138.4:c.6418G>A , LRG_778t1:c.6418G>A | NP_000129.3:p.Gly2140Arg | |
| NM_000138.5:c.6418G>A MANE Select | NP_000129.3:p.Gly2140Arg |