Revel Score:
ENST00000216797 (MANE Select)
0.047
ENST00000557140
0.047
gnomAD v4:
Joint Max Group AF
0.0000037 (SAS)
Exomes Max Group AF
0.00000391 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35404505T>C , CM000676.2:g.35404505T>C | GRCh38 |
| NC_000014.8:g.35873711T>C , CM000676.1:g.35873711T>C | GRCh37 |
| NC_000014.7:g.34943462T>C | NCBI36 |
| NG_007571.1:g.5234A>G , LRG_89:g.5234A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553342.2:c.135+5A>G | ENSP00000451281.2:n.135+5A>G | |
| ENST00000557459.2:n.238A>G | ||
| ENST00000697957.1:n.245A>G | ||
| ENST00000697958.1:n.238A>G | ||
| ENST00000697959.1:n.245A>G | ||
| ENST00000697960.1:n.225A>G | ||
| ENST00000697961.1:c.140A>G | ENSP00000513487.1:p.Lys47Arg | |
| ENST00000697966.1:n.158A>G | ||
| ENST00000216797.10:c.140A>G MANE Select | ENSP00000216797.6:p.Lys47Arg | |
| ENST00000216797.9:c.140A>G | ENSP00000216797.5:p.Lys47Arg | |
| ENST00000553342.1:c.135+5A>G | ENSP00000451281.1:n.135+5A>G | |
| ENST00000554001.5:c.140A>G | ENSP00000450537.1:p.Lys47Arg | |
| ENST00000555629.1:n.245A>G | ||
| ENST00000557100.5:n.196A>G | ||
| ENST00000557140.5:c.140A>G | ENSP00000451257.1:p.Lys47Arg | |
| ENST00000557459.1:n.238A>G | ||
| NM_020529.2:c.140A>G , LRG_89t1:c.140A>G | NP_065390.1:p.Lys47Arg | |
| NM_020529.3:c.140A>G MANE Select | NP_065390.1:p.Lys47Arg |