Revel Score:
ENST00000543831
0.834
ENST00000369416 (MANE Select)
0.834
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422165C>G , CM000663.2:g.119422165C>G | GRCh38 |
| NC_000001.10:g.119964788C>G , CM000663.1:g.119964788C>G | GRCh37 |
| NC_000001.9:g.119766311C>G | NCBI36 |
| NG_013349.1:g.12235C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.664C>G MANE Select | ENSP00000358424.3:p.Pro222Ala | |
| ENST00000369416.3:c.664C>G | ENSP00000358424.3:p.Pro222Ala | |
| ENST00000543831.5:c.664C>G | ENSP00000445122.1:p.Pro222Ala | |
| NM_000198.3:c.664C>G | NP_000189.1:p.Pro222Ala | |
| NM_001166120.1:c.664C>G | NP_001159592.1:p.Pro222Ala | |
| NM_000198.4:c.664C>G MANE Select | NP_000189.1:p.Pro222Ala | |
| NM_001166120.2:c.664C>G | NP_001159592.1:p.Pro222Ala |