Revel Score:
ENST00000209929 (MANE Select)
0.089
ENST00000441535
0.089
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171207773T>A , CM000663.2:g.171207773T>A | GRCh38 |
| NC_000001.10:g.171176912T>A , CM000663.1:g.171176912T>A | GRCh37 |
| NC_000001.9:g.169443536T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209929.10:c.1239T>A MANE Select | ENSP00000209929.8:p.Asn413Lys | |
| ENST00000209929.9:c.1239T>A | ENSP00000209929.8:p.Asn413Lys | |
| ENST00000488431.1:n.231T>A | ||
| ENST00000529935.5:c.1024T>A | ENSP00000487002.1:n.1024T>A | |
| NM_001301347.1:c.579T>A | NP_001288276.1:p.Asn193Lys | |
| NM_001460.4:c.1239T>A | NP_001451.2:p.Asn413Lys | |
| XR_426768.2:n.1356T>A | ||
| XR_921761.1:n.1356T>A | ||
| XR_922278.1:n.508-39585A>T | ||
| NM_001365900.1:c.1044T>A | NP_001352829.1:p.Asn348Lys | |
| NR_158622.1:n.1259T>A | ||
| XR_001737072.2:n.1306T>A | ||
| XR_001738291.2:n.1307-39585A>T | ||
| XR_921761.3:n.1306T>A | ||
| XR_922278.3:n.1307-39585A>T | ||
| NM_001460.5:c.1239T>A MANE Select | NP_001451.2:p.Asn413Lys | |
| NR_160266.1:n.1167T>A | ||
| NM_001301347.2:c.579T>A | NP_001288276.1:p.Asn193Lys |