Revel Score:
ENST00000376751
0.047
ENST00000244360 (MANE Select)
0.047
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30073232A>C , CM000668.2:g.30073232A>C | GRCh38 |
| NC_000006.11:g.30041009A>C , CM000668.1:g.30041009A>C | GRCh37 |
| NC_000006.10:g.30148988A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244360.8:c.403T>G MANE Select | ENSP00000244360.7:p.Ser135Ala | |
| ENST00000244360.7:c.403T>G | ENSP00000244360.7:p.Ser135Ala | |
| ENST00000376751.8:c.403T>G | ENSP00000365942.4:p.Ser135Ala | |
| ENST00000244360.6:c.607T>G | ENSP00000244360.6:p.Ser203Ala | |
| ENST00000376751.7:c.607T>G | ENSP00000365942.3:p.Ser203Ala | |
| NM_025236.3:c.607T>G | NP_079512.2:p.Ser203Ala | |
| NM_170769.2:c.607T>G | NP_739575.2:p.Ser203Ala | |
| XM_017011325.1:c.148T>G | XP_016866814.1:p.Ser50Ala | |
| XM_017011326.1:c.607T>G | XP_016866815.1:p.Ser203Ala | |
| NM_025236.4:c.403T>G MANE Select | NP_079512.3:p.Ser135Ala | |
| NM_170769.3:c.403T>G | NP_739575.3:p.Ser135Ala |