Revel Score:
ENST00000335295 (MANE Select)
0.633
ENST00000380315
0.633
gnomAD v2:
gnomAD v4:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226641C>T , CM000673.2:g.5226641C>T | GRCh38 |
| NC_000011.9:g.5247871C>T , CM000673.1:g.5247871C>T | GRCh37 |
| NC_000011.8:g.5204447C>T | NCBI36 |
| NG_000007.3:g.70975G>A | |
| NG_059281.1:g.5431G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.251G>A | ENSP00000494175.1:p.Gly84Asp | |
| ENST00000335295.4:c.251G>A MANE Select | ENSP00000333994.3:p.Gly84Asp | |
| ENST00000380315.2:c.251G>A | ENSP00000369671.2:p.Gly84Asp | |
| ENST00000475226.1:n.183G>A | ||
| ENST00000485743.1:n.302G>A | ||
| ENST00000633227.1:c.*67G>A | ENSP00000488004.1:n.*67G>A | |
| NM_000518.4:c.251G>A | NP_000509.1:p.Gly84Asp | |
| NM_000518.5:c.251G>A MANE Select | NP_000509.1:p.Gly84Asp |