Revel Score:
ENST00000380314
0.027
ENST00000298386 (MANE Select)
0.027
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.31777398A>G , CM000675.2:g.31777398A>G | GRCh38 |
| NC_000013.10:g.32351535A>G , CM000675.1:g.32351535A>G | GRCh37 |
| NC_000013.9:g.31249535A>G | NCBI36 |
| NG_015819.1:g.42857A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298386.7:c.664A>G MANE Select | ENSP00000298386.2:p.Thr222Ala | |
| ENST00000298386.6:c.664A>G | ENSP00000298386.2:p.Thr222Ala | |
| ENST00000380314.2:c.664A>G | ENSP00000369670.1:p.Thr222Ala | |
| NM_001166058.1:c.664A>G | NP_001159530.1:p.Thr222Ala | |
| NM_130806.3:c.664A>G | NP_570718.1:p.Thr222Ala | |
| XM_011534918.1:c.664A>G | XP_011533220.1:p.Thr222Ala | |
| NM_130806.4:c.664A>G | NP_570718.1:p.Thr222Ala | |
| XM_017020389.1:c.664A>G | XP_016875878.1:p.Thr222Ala | |
| NM_130806.5:c.664A>G MANE Select | NP_570718.1:p.Thr222Ala | |
| NM_001166058.2:c.664A>G | NP_001159530.1:p.Thr222Ala |