Revel Score:
ENST00000322048 (MANE Select)
0.137
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4802567G>A , CM000678.2:g.4802567G>A | GRCh38 |
| NC_000016.9:g.4852568G>A , CM000678.1:g.4852568G>A | GRCh37 |
| NC_000016.8:g.4792569G>A | NCBI36 |
| NG_032174.1:g.5384C>T , LRG_455:g.5384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.5C>T MANE Select | ENSP00000322832.6:p.Ala2Val | |
| ENST00000322048.11:c.5C>T | ENSP00000322832.5:p.Ala2Val | |
| ENST00000585653.1:n.64C>T | ||
| ENST00000585871.1:n.314C>T | ||
| ENST00000587377.5:c.5C>T | ENSP00000468343.1:p.Ala2Val | |
| ENST00000587711.5:c.5C>T | ENSP00000467459.1:p.Ala2Val | |
| ENST00000587843.5:c.5C>T | ENSP00000465970.1:p.Ala2Val | |
| ENST00000588201.5:c.5C>T | ENSP00000466529.1:p.Ala2Val | |
| ENST00000590198.1:n.99C>T | ||
| ENST00000591392.5:c.5C>T | ENSP00000467509.1:p.Ala2Val | |
| ENST00000592112.1:n.290C>T | ||
| NM_024589.2:c.5C>T , LRG_455t1:c.5C>T | NP_078865.1:p.Ala2Val | |
| NR_046480.1:n.384C>T | ||
| XM_006720947.2:c.5C>T | XP_006721010.1:p.Ala2Val | |
| XM_006720948.2:c.-211C>T | XP_006721011.1:n.-211C>T | |
| XM_006720947.4:c.5C>T | XP_006721010.1:p.Ala2Val | |
| XM_006720948.4:c.-211C>T | XP_006721011.1:n.-211C>T | |
| NM_024589.3:c.5C>T MANE Select | NP_078865.1:p.Ala2Val | |
| NR_046480.2:n.67C>T |