Revel Score:
ENST00000373467 (MANE Select)
0.735
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32889110C>A , CM000663.2:g.32889110C>A | GRCh38 |
| NC_000001.10:g.33354711C>A , CM000663.1:g.33354711C>A | GRCh37 |
| NC_000001.9:g.33127298C>A | NCBI36 |
| NG_042176.1:g.8024C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373467.4:c.212C>A MANE Select | ENSP00000362566.3:p.Thr71Asn | |
| ENST00000373467.3:c.212C>A | ENSP00000362566.3:p.Thr71Asn | |
| ENST00000459874.5:n.54+2595C>A | ||
| ENST00000470166.5:n.126+2991C>A | ||
| ENST00000480118.5:n.271C>A | ||
| NM_002143.2:c.212C>A | NP_002134.2:p.Thr71Asn | |
| XM_005270792.1:c.212C>A | XP_005270849.1:p.Thr71Asn | |
| XM_005270792.3:c.212C>A | XP_005270849.1:p.Thr71Asn | |
| XM_017001118.2:c.212C>A | XP_016856607.1:p.Thr71Asn | |
| NM_002143.3:c.212C>A MANE Select | NP_002134.2:p.Thr71Asn |