Revel Score:
ENST00000304611 (MANE Select)
0.517
ENST00000244546
0.517
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42969898G>T , CM000668.2:g.42969898G>T | GRCh38 |
| NC_000006.11:g.42937636G>T , CM000668.1:g.42937636G>T | GRCh37 |
| NC_000006.10:g.43045614G>T | NCBI36 |
| NG_008370.1:g.14346C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1220C>A MANE Select | ENSP00000303511.8:p.Thr407Asn | |
| ENST00000244546.4:c.1220C>A | ENSP00000244546.4:p.Thr407Asn | |
| ENST00000304611.12:c.1220C>A | ENSP00000303511.8:p.Thr407Asn | |
| NM_000287.3:c.1220C>A | NP_000278.3:p.Thr407Asn | |
| NM_001316313.1:c.956C>A | NP_001303242.1:p.Thr319Asn | |
| NR_133009.1:n.1313C>A | ||
| XM_011514661.1:c.1136C>A | XP_011512963.1:p.Thr379Asn | |
| XR_926246.1:n.1313C>A | ||
| XM_011514661.2:c.1136C>A | XP_011512963.1:p.Thr379Asn | |
| XR_001743466.2:n.2294C>A | ||
| NM_000287.4:c.1220C>A MANE Select | NP_000278.3:p.Thr407Asn | |
| NM_001316313.2:c.956C>A | NP_001303242.1:p.Thr319Asn | |
| NR_133009.2:n.1251C>A |