Revel Score:
ENST00000375499 (MANE Select)
0.927
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028736C>T , CM000663.2:g.17028736C>T | GRCh38 |
| NC_000001.10:g.17355231C>T , CM000663.1:g.17355231C>T | GRCh37 |
| NC_000001.9:g.17227818C>T | NCBI36 |
| NG_012340.1:g.30435G>A , LRG_316:g.30435G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.116G>A | ENSP00000481376.2:p.Gly39Asp | |
| ENST00000491274.6:c.245G>A | ENSP00000480482.2:p.Gly82Asp | |
| ENST00000375499.8:c.287G>A MANE Select | ENSP00000364649.3:p.Gly96Asp | |
| ENST00000375499.7:c.287G>A | ENSP00000364649.3:p.Gly96Asp | |
| ENST00000463045.2:c.116G>A | ENSP00000481376.1:p.Gly39Asp | |
| ENST00000475506.1:n.204G>A | ||
| ENST00000485515.5:n.275G>A | ||
| ENST00000491274.5:c.245G>A | ENSP00000480482.1:p.Gly82Asp | |
| NM_003000.2:c.287G>A , LRG_316t1:c.287G>A | NP_002991.2:p.Gly96Asp | |
| NM_003000.3:c.287G>A MANE Select | NP_002991.2:p.Gly96Asp |