Revel Score:
ENST00000378623 (MANE Select)
0.599
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46894748T>C , CM000673.2:g.46894748T>C | GRCh38 |
| NC_000011.9:g.46916299T>C , CM000673.1:g.46916299T>C | GRCh37 |
| NC_000011.8:g.46872875T>C | NCBI36 |
| NG_021394.1:g.28875A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.1381A>G MANE Select | ENSP00000367888.1:p.Thr461Ala | |
| ENST00000378623.5:c.1381A>G | ENSP00000367888.1:p.Thr461Ala | |
| NM_002334.3:c.1381A>G | NP_002325.2:p.Thr461Ala | |
| XM_011520102.1:c.1594A>G | XP_011518404.1:p.Thr532Ala | |
| XM_011520103.1:c.577A>G | XP_011518405.1:p.Thr193Ala | |
| XM_011520103.2:c.577A>G | XP_011518405.1:p.Thr193Ala | |
| XM_017017734.1:c.1381A>G | XP_016873223.1:p.Thr461Ala | |
| NM_002334.4:c.1381A>G MANE Select | NP_002325.2:p.Thr461Ala |