ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000276297 (MANE Select)
0.047
ENST00000358919
0.047
ENST00000512044
0.047
ENST00000520226
0.047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.13099462T>C , CM000670.2:g.13099462T>C | GRCh38 |
| NC_000008.10:g.12956971T>C , CM000670.1:g.12956971T>C | GRCh37 |
| NC_000008.9:g.13001342T>C | NCBI36 |
| NG_015998.1:g.420459A>G | |
| NG_015998.2:g.510144A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276297.9:c.2875A>G MANE Select | ENSP00000276297.4:p.Thr959Ala | |
| ENST00000276297.8:c.2875A>G | ENSP00000276297.4:p.Thr959Ala | |
| ENST00000358919.6:c.1564A>G | ENSP00000351797.2:p.Thr522Ala | |
| ENST00000510250.2:n.1444A>G | ||
| ENST00000512044.6:c.1666A>G | ENSP00000422595.2:p.Thr556Ala | |
| ENST00000520226.5:c.1342A>G | ENSP00000428028.1:p.Thr448Ala | |
| NM_001164271.1:c.1342A>G | NP_001157743.1:p.Thr448Ala | |
| NM_001316668.1:c.1666A>G | NP_001303597.1:p.Thr556Ala | |
| NM_006094.4:c.1564A>G | NP_006085.2:p.Thr522Ala | |
| NM_182643.2:c.2875A>G | NP_872584.2:p.Thr959Ala | |
| XM_005273374.1:c.2875A>G | XP_005273431.1:p.Thr959Ala | |
| NM_001348081.1:c.2875A>G | NP_001335010.1:p.Thr959Ala | |
| NM_001348082.1:c.1342A>G | NP_001335011.1:p.Thr448Ala | |
| NM_001348083.1:c.1342A>G | NP_001335012.1:p.Thr448Ala | |
| NM_001348084.1:c.1342A>G | NP_001335013.1:p.Thr448Ala | |
| NM_182643.3:c.2875A>G MANE Select | NP_872584.2:p.Thr959Ala | |
| NM_001316668.2:c.1666A>G | NP_001303597.1:p.Thr556Ala | |
| NM_001348081.2:c.2875A>G | NP_001335010.1:p.Thr959Ala | |
| NM_001348082.2:c.1342A>G | NP_001335011.1:p.Thr448Ala | |
| NM_001348084.2:c.1342A>G | NP_001335013.1:p.Thr448Ala | |
| NM_006094.5:c.1564A>G | NP_006085.2:p.Thr522Ala | |
| NM_001164271.2:c.1342A>G | NP_001157743.1:p.Thr448Ala |