Revel Score:
ENST00000299138 (MANE Select)
0.543
ENST00000541330
0.543
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46662452C>T , CM000678.2:g.46662452C>T | GRCh38 |
| NC_000016.9:g.46696364C>T , CM000678.1:g.46696364C>T | GRCh37 |
| NC_000016.8:g.45253865C>T | NCBI36 |
| NG_029970.1:g.31781G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299138.12:c.1858G>A MANE Select | ENSP00000299138.7:p.Asp620Asn | |
| ENST00000647959.1:c.*1921G>A | ENSP00000497702.1:n.*1921G>A | |
| ENST00000299138.11:c.1858G>A | ENSP00000299138.7:p.Asp620Asn | |
| ENST00000562420.1:n.496G>A | ||
| ENST00000568784.6:c.*2528G>A | ENSP00000456274.2:n.*2528G>A | |
| NM_018206.4:c.1858G>A | NP_060676.2:p.Asp620Asn | |
| XM_005256045.2:c.1657G>A | XP_005256102.1:p.Asp553Asn | |
| XM_011523227.1:c.1771G>A | XP_011521529.1:p.Asp591Asn | |
| NM_018206.5:c.1858G>A | NP_060676.2:p.Asp620Asn | |
| XM_005256045.3:c.1657G>A | XP_005256102.1:p.Asp553Asn | |
| XM_011523227.3:c.1771G>A | XP_011521529.1:p.Asp591Asn | |
| NM_018206.6:c.1858G>A MANE Select | NP_060676.2:p.Asp620Asn |