Revel Score:
ENST00000493422 (MANE Select)
0.109
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52752940G>T , CM000668.2:g.52752940G>T | GRCh38 |
| NC_000006.11:g.52617738G>T , CM000668.1:g.52617738G>T | GRCh37 |
| NC_000006.10:g.52725697G>T | NCBI36 |
| NG_029430.1:g.15624C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493422.3:c.328C>A MANE Select | ENSP00000420168.1:p.Pro110Thr | |
| ENST00000493422.2:c.328C>A | ENSP00000420168.1:p.Pro110Thr | |
| NM_000846.4:c.328C>A | NP_000837.3:p.Pro110Thr | |
| XM_011514532.1:c.328C>A | XP_011512834.1:p.Pro110Thr | |
| XM_011514532.3:c.328C>A | XP_011512834.1:p.Pro110Thr | |
| NM_000846.5:c.328C>A MANE Select | NP_000837.3:p.Pro110Thr |