Revel Score:
ENST00000520113 (MANE Select)
0.718
ENST00000369538
0.718
ENST00000353928
0.718
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114679616T>C , CM000663.2:g.114679616T>C | GRCh38 |
| NC_000001.10:g.115222237T>C , CM000663.1:g.115222237T>C | GRCh37 |
| NC_000001.9:g.115023760T>C | NCBI36 |
| NG_008012.1:g.20940A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.848A>G | ENSP00000358551.4:p.Lys283Arg | |
| ENST00000520113.7:c.860A>G MANE Select | ENSP00000430075.3:p.Lys287Arg | |
| ENST00000637080.1:c.643A>G | ENSP00000489753.1:n.643A>G | |
| ENST00000639077.1:n.525A>G | ||
| ENST00000369538.3:c.947A>G | ENSP00000358551.3:p.Lys316Arg | |
| ENST00000520113.6:c.959A>G | ENSP00000430075.2:p.Lys320Arg | |
| NM_000036.2:c.959A>G | NP_000027.2:p.Lys320Arg | |
| NM_001172626.1:c.947A>G | NP_001166097.1:p.Lys316Arg | |
| NM_000036.3:c.860A>G MANE Select | NP_000027.3:p.Lys287Arg | |
| NM_001172626.2:c.848A>G | NP_001166097.2:p.Lys283Arg |