Revel Score:
ENST00000503569
0.385
ENST00000226760 (MANE Select)
0.385
ENST00000506362
0.256
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004283 (AMR)
Exomes Max Group AF
0.00004358 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6295044A>G , CM000666.2:g.6295044A>G | GRCh38 |
| NC_000004.11:g.6296771A>G , CM000666.1:g.6296771A>G | GRCh37 |
| NC_000004.10:g.6347672A>G | NCBI36 |
| NG_011700.1:g.30195A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.752A>G | ENSP00000507852.1:p.Lys251Arg | |
| ENST00000683395.1:c.693A>G | ||
| ENST00000684087.1:c.716A>G | ENSP00000506978.1:p.Lys239Arg | |
| ENST00000506362.2:c.467A>G | ENSP00000424103.2:p.Lys156Arg | |
| ENST00000673642.1:c.515A>G | ENSP00000501242.1:p.Lys172Arg | |
| ENST00000673991.1:c.752A>G | ENSP00000501033.1:p.Lys251Arg | |
| ENST00000226760.5:c.716A>G MANE Select | ENSP00000226760.1:p.Lys239Arg | |
| ENST00000503569.5:c.716A>G | ENSP00000423337.1:p.Lys239Arg | |
| ENST00000506362.1:c.349A>G | ||
| ENST00000507765.1:n.901A>G | ||
| ENST00000513395.1:n.274A>G | ||
| NM_001145853.1:c.716A>G | NP_001139325.1:p.Lys239Arg | |
| NM_006005.3:c.716A>G MANE Select | NP_005996.2:p.Lys239Arg | |
| XM_017008586.1:c.725A>G | XP_016864075.1:p.Lys242Arg |