Revel Score:
ENST00000316673 (MANE Select)
0.239
ENST00000457232
0.239
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44355813C>A , CM000682.2:g.44355813C>A | GRCh38 |
| NC_000020.10:g.42984453C>A , CM000682.1:g.42984453C>A | GRCh37 |
| NC_000020.9:g.42417867C>A | NCBI36 |
| NG_009818.1:g.5013C>A , LRG_483:g.5013C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.9C>A MANE Select | ENSP00000315180.4:p.Ser3Arg | |
| ENST00000316673.8:c.9C>A | ENSP00000315180.4:p.Ser3Arg | |
| ENST00000457232.5:c.9C>A | ENSP00000396216.1:p.Ser3Arg | |
| ENST00000609262.5:c.-223C>A | ENSP00000476310.1:n.-223C>A | |
| ENST00000609795.5:c.9C>A | ENSP00000476609.1:p.Ser3Arg | |
| ENST00000619550.4:c.-223C>A | ENSP00000481331.1:n.-223C>A | |
| NM_001030003.2:c.9C>A | NP_001025174.1:p.Ser3Arg | |
| NM_001030004.2:c.9C>A | NP_001025175.1:p.Ser3Arg | |
| NM_001287182.1:c.-223C>A | NP_001274111.1:n.-223C>A | |
| NM_001287183.1:c.-223C>A , LRG_483t3:c.-223C>A | NP_001274112.1:n.-223C>A | |
| NM_001287184.1:c.-223C>A | NP_001274113.1:n.-223C>A | |
| NM_175914.4:c.9C>A , LRG_483t1:c.9C>A | NP_787110.2:p.Ser3Arg | |
| NM_001030003.3:c.9C>A | NP_001025174.1:p.Ser3Arg | |
| NM_001030004.3:c.9C>A | NP_001025175.1:p.Ser3Arg | |
| NM_001287182.2:c.-223C>A | NP_001274111.1:n.-223C>A | |
| NM_001287184.2:c.-223C>A | NP_001274113.1:n.-223C>A | |
| NM_001287183.2:c.-223C>A | NP_001274112.1:n.-223C>A | |
| NM_175914.5:c.9C>A MANE Select | NP_787110.2:p.Ser3Arg |