Revel Score:
ENST00000318388 (MANE Select)
0.058
ENST00000400033
0.058
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.9117869T>A , CM000680.2:g.9117869T>A | GRCh38 |
| NC_000018.9:g.9117867T>A , CM000680.1:g.9117867T>A | GRCh37 |
| NC_000018.8:g.9107867T>A | NCBI36 |
| NG_013355.1:g.20240T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318388.11:c.86T>A MANE Select | ENSP00000327268.6:p.Val29Asp | |
| ENST00000318388.10:c.86T>A | ENSP00000327268.6:p.Val29Asp | |
| ENST00000400033.1:c.95T>A | ENSP00000382908.1:p.Val32Asp | |
| ENST00000474350.5:n.483T>A | ||
| ENST00000483511.1:n.145T>A | ||
| ENST00000577703.1:c.*602T>A | ENSP00000461911.1:n.*602T>A | |
| ENST00000583375.5:n.177T>A | ||
| NM_021074.4:c.86T>A | NP_066552.2:p.Val29Asp | |
| XR_243808.1:n.188T>A | ||
| XM_017025782.1:c.-2T>A | XP_016881271.1:n.-2T>A | |
| XR_002958175.1:n.188T>A | ||
| XR_243808.3:n.103T>A | ||
| NM_021074.5:c.86T>A MANE Select | NP_066552.2:p.Val29Asp |