Revel Score:
ENST00000540732
0.986
ENST00000269980 (MANE Select)
0.986
ENST00000542943
0.986
ENST00000457836
0.986
ENST00000378196
0.986
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422680A>C , CM000681.2:g.41422680A>C | GRCh38 |
| NC_000019.9:g.41928585A>C , CM000681.1:g.41928585A>C | GRCh37 |
| NC_000019.8:g.46620425A>C | NCBI36 |
| NG_013004.1:g.29892A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.905A>C MANE Select | ENSP00000269980.2:p.Asp302Ala | |
| ENST00000269980.6:c.905A>C | ENSP00000269980.2:p.Asp302Ala | |
| ENST00000457836.6:c.839A>C | ENSP00000416000.2:p.Asp280Ala | |
| ENST00000535632.5:n.534A>C | ||
| ENST00000540732.3:c.1007A>C | ENSP00000443246.1:p.Asp336Ala | |
| ENST00000542943.5:c.818A>C | ENSP00000440345.1:p.Asp273Ala | |
| ENST00000545787.1:n.533A>C | ||
| ENST00000595085.5:c.905A>C | ENSP00000471150.2:p.Asp302Ala | |
| NM_000709.3:c.905A>C | NP_000700.1:p.Asp302Ala | |
| NM_001164783.1:c.902A>C | NP_001158255.1:p.Asp301Ala | |
| NM_000709.4:c.905A>C MANE Select | NP_000700.1:p.Asp302Ala | |
| NM_001164783.2:c.902A>C | NP_001158255.1:p.Asp301Ala |