Revel Score:
ENST00000332272 (MANE Select)
0.952
ENST00000390664
0.952
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00036959 (NFE)
Genomes Max Group AF
0.00030411 (NFE)
Exomes Max Group AF
0.00036704 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75479230A>C , CM000678.2:g.75479230A>C | GRCh38 |
| NC_000016.9:g.75513128A>C , CM000678.1:g.75513128A>C | GRCh37 |
| NC_000016.8:g.74070629A>C | NCBI36 |
| NG_016442.1:g.20799T>G | |
| NG_016442.2:g.21212T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332272.9:c.599T>G MANE Select | ENSP00000328983.4:p.Leu200Arg | |
| ENST00000390664.3:c.599T>G | ENSP00000375079.2:p.Leu200Arg | |
| ENST00000649341.1:c.599T>G | ENSP00000497635.1:p.Leu200Arg | |
| ENST00000649824.1:c.599T>G | ENSP00000496806.1:p.Leu200Arg | |
| ENST00000332272.8:c.599T>G | ENSP00000328983.4:p.Leu200Arg | |
| ENST00000390664.2:c.599T>G | ENSP00000375079.2:p.Leu200Arg | |
| NM_021615.4:c.599T>G | NP_067628.1:p.Leu200Arg | |
| XM_005255955.3:c.599T>G | XP_005256012.1:p.Leu200Arg | |
| XM_011523085.1:c.599T>G | XP_011521387.1:p.Leu200Arg | |
| NM_021615.5:c.599T>G MANE Select | NP_067628.1:p.Leu200Arg | |
| XM_005255955.5:c.599T>G | XP_005256012.1:p.Leu200Arg | |
| XM_011523085.3:c.599T>G | XP_011521387.1:p.Leu200Arg | |
| NR_163480.1:n.733+2587T>G | ||
| NR_163481.1:n.577+2587T>G |