Revel Score:
ENST00000378588 (MANE Select)
0.877
ENST00000545017
0.877
ENST00000536160
0.877
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37803886C>A , CM000685.2:g.37803886C>A | GRCh38 |
| NC_000023.10:g.37663139C>A , CM000685.1:g.37663139C>A | GRCh37 |
| NC_000023.9:g.37548083C>A | NCBI36 |
| NG_009065.1:g.28870C>A , LRG_53:g.28870C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*416C>A | ENSP00000512461.1:n.*416C>A | |
| ENST00000696171.1:c.811C>A | ENSP00000512462.1:p.His271Asn | |
| ENST00000378588.5:c.907C>A MANE Select | ENSP00000367851.4:p.His303Asn | |
| ENST00000378588.4:c.907C>A | ENSP00000367851.4:p.His303Asn | |
| ENST00000465127.1:c.171+377886C>A | ENSP00000417050.1:n.171+377886C>A | |
| ENST00000492288.1:n.332C>A | ||
| NM_000397.3:c.907C>A , LRG_53t1:c.907C>A | NP_000388.2:p.His303Asn | |
| XM_011543890.1:c.601C>A | XP_011542192.1:p.His201Asn | |
| NM_000397.4:c.907C>A MANE Select | NP_000388.2:p.His303Asn |