ClinGen Evidence Repository:
Classification
Benign
Revel Score:
ENST00000263967 (MANE Select)
0.269
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00219327 (EAS)
Genomes Max Group AF
0.0032029 (EAS)
Exomes Max Group AF
0.00192152 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179224091A>G , CM000665.2:g.179224091A>G | GRCh38 |
| NC_000003.11:g.178941879A>G , CM000665.1:g.178941879A>G | GRCh37 |
| NC_000003.10:g.180424573A>G | NCBI36 |
| NG_012113.2:g.80569A>G , LRG_310:g.80569A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.2198A>G MANE Select | ENSP00000263967.3:p.Lys733Arg | |
| ENST00000462255.2:n.660A>G | ||
| ENST00000643187.1:c.2198A>G | ENSP00000493507.1:p.Lys733Arg | |
| ENST00000674534.1:n.3106A>G | ||
| ENST00000674622.1:c.619A>G | ENSP00000502417.1:n.619A>G | |
| ENST00000675467.1:n.5005A>G | ||
| ENST00000675786.1:c.*765A>G | ENSP00000502323.1:n.*765A>G | |
| ENST00000263967.3:c.2198A>G | ENSP00000263967.3:p.Lys733Arg | |
| ENST00000462255.1:n.472A>G | ||
| NM_006218.2:c.2198A>G , LRG_310t1:c.2198A>G | NP_006209.2:p.Lys733Arg | |
| XM_006713658.2:c.2198A>G | XP_006713721.1:p.Lys733Arg | |
| XM_011512894.1:c.2198A>G | XP_011511196.1:p.Lys733Arg | |
| NM_006218.3:c.2198A>G | NP_006209.2:p.Lys733Arg | |
| XM_006713658.4:c.2198A>G | XP_006713721.1:p.Lys733Arg | |
| XM_011512894.2:c.2198A>G | XP_011511196.1:p.Lys733Arg | |
| NM_006218.4:c.2198A>G MANE Select | NP_006209.2:p.Lys733Arg |