Revel Score:
ENST00000375994
0.142
ENST00000375985 (MANE Select)
0.142
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31820503C>A , CM000682.2:g.31820503C>A | GRCh38 |
| NC_000020.10:g.30408306C>A , CM000682.1:g.30408306C>A | GRCh37 |
| NC_000020.9:g.29871967C>A | NCBI36 |
| NG_012847.1:g.6129C>A , LRG_392:g.6129C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.430C>A MANE Select | ENSP00000365152.4:p.Pro144Thr | |
| ENST00000375985.4:c.430C>A | ENSP00000365152.4:p.Pro144Thr | |
| ENST00000375994.6:c.430C>A | ENSP00000365162.2:p.Pro144Thr | |
| NM_033118.3:c.430C>A , LRG_392t1:c.430C>A | NP_149109.1:p.Pro144Thr | |
| XR_244155.1:n.595C>A | ||
| NM_033118.4:c.430C>A MANE Select | NP_149109.1:p.Pro144Thr |