Revel Score:
ENST00000373467 (MANE Select)
0.823
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32889123C>G , CM000663.2:g.32889123C>G | GRCh38 |
| NC_000001.10:g.33354724C>G , CM000663.1:g.33354724C>G | GRCh37 |
| NC_000001.9:g.33127311C>G | NCBI36 |
| NG_042176.1:g.8037C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373467.4:c.225C>G MANE Select | ENSP00000362566.3:p.Asn75Lys | |
| ENST00000373467.3:c.225C>G | ENSP00000362566.3:p.Asn75Lys | |
| ENST00000459874.5:n.54+2608C>G | ||
| ENST00000470166.5:n.126+3004C>G | ||
| ENST00000480118.5:n.284C>G | ||
| NM_002143.2:c.225C>G | NP_002134.2:p.Asn75Lys | |
| XM_005270792.1:c.225C>G | XP_005270849.1:p.Asn75Lys | |
| XM_005270792.3:c.225C>G | XP_005270849.1:p.Asn75Lys | |
| XM_017001118.2:c.225C>G | XP_016856607.1:p.Asn75Lys | |
| NM_002143.3:c.225C>G MANE Select | NP_002134.2:p.Asn75Lys |