Revel Score:
ENST00000255078 (MANE Select)
0.299
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004617 (NFE)
Genomes Max Group AF
0.00006803 (NFE)
Exomes Max Group AF
0.00004178 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68939621A>G , CM000673.2:g.68939621A>G | GRCh38 |
| NC_000011.9:g.68707089A>G , CM000673.1:g.68707089A>G | GRCh37 |
| NC_000011.8:g.68463665A>G | NCBI36 |
| NG_007976.1:g.40771A>G , LRG_250:g.40771A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2872A>G MANE Select | ENSP00000255078.4:p.Asn958Asp | |
| ENST00000675118.1:c.2360A>G | ||
| ENST00000675615.1:c.*71A>G | ENSP00000502413.1:n.*71A>G | |
| ENST00000675648.1:n.2434A>G | ||
| ENST00000675916.1:c.1303A>G | ||
| ENST00000676173.1:n.3617A>G | ||
| ENST00000255078.7:c.2872A>G | ENSP00000255078.3:p.Asn958Asp | |
| ENST00000543739.5:n.1865A>G | ||
| ENST00000544521.1:n.703A>G | ||
| NM_002180.2:c.2872A>G , LRG_250t1:c.2872A>G | NP_002171.2:p.Asn958Asp | |
| XM_005273974.2:c.1861A>G | XP_005274031.1:p.Asn621Asp | |
| XM_005273975.2:c.1744A>G | XP_005274032.1:p.Asn582Asp | |
| XM_011544994.1:c.1639A>G | XP_011543296.1:p.Asn547Asp | |
| XR_949903.1:n.3161A>G | ||
| XM_005273975.3:c.1744A>G | XP_005274032.1:p.Asn582Asp | |
| XM_017017669.2:c.1861A>G | XP_016873158.1:p.Asn621Asp | |
| XM_017017670.2:c.1861A>G | XP_016873159.1:p.Asn621Asp | |
| XR_949903.3:n.3157A>G | ||
| NM_002180.3:c.2872A>G MANE Select | NP_002171.2:p.Asn958Asp |