COSMIC:
COSM3753653 (not active)
COSM5827369 (not active)
Revel Score:
ENST00000399365
0.093
ENST00000255486
0.093
ENST00000336934 (MANE Select)
0.093
ENST00000399364
0.093
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29918035 (AMR)
Genomes Max Group AF
0.26930605 (SAS)
Exomes Max Group AF
0.3127136 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33129928T>C , CM000675.2:g.33129928T>C | GRCh38 |
| NC_000013.10:g.33704065T>C , CM000675.1:g.33704065T>C | GRCh37 |
| NC_000013.9:g.32602065T>C | NCBI36 |
| NG_029752.1:g.160837A>G | |
| NG_029752.2:g.551908A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567873.2:c.704A>G | ENSP00000456233.2:p.Lys235Arg | |
| ENST00000336934.10:c.749A>G MANE Select | ENSP00000338785.4:p.Lys250Arg | |
| ENST00000255486.8:c.725A>G | ENSP00000255486.4:p.Lys242Arg | |
| ENST00000336934.9:c.749A>G | ENSP00000338785.4:p.Lys250Arg | |
| ENST00000399365.7:c.395A>G | ENSP00000382300.3:p.Lys132Arg | |
| ENST00000567873.1:c.704A>G | ENSP00000456233.1:p.Lys235Arg | |
| NM_001243466.1:c.725A>G | NP_001230395.1:p.Lys242Arg | |
| NM_001243474.1:c.395A>G | NP_001230403.1:p.Lys132Arg | |
| NM_001243476.2:c.644A>G | NP_001230405.1:p.Lys215Arg | |
| NM_052851.2:c.395A>G | NP_443083.1:p.Lys132Arg | |
| NM_178006.3:c.749A>G | NP_821074.1:p.Lys250Arg | |
| NM_178007.2:c.725A>G | NP_821075.1:p.Lys242Arg | |
| XM_011535298.1:c.782A>G | XP_011533600.1:p.Lys261Arg | |
| XM_011535299.1:c.644A>G | XP_011533601.1:p.Lys215Arg | |
| XM_011535299.3:c.644A>G | XP_011533601.1:p.Lys215Arg | |
| XM_017020834.2:c.704A>G | XP_016876323.1:p.Lys235Arg | |
| XM_017020835.2:c.644A>G | XP_016876324.1:p.Lys215Arg | |
| XM_024449429.1:c.644A>G | XP_024305197.1:p.Lys215Arg | |
| NM_178006.4:c.749A>G MANE Select | NP_821074.1:p.Lys250Arg | |
| NM_001243466.2:c.725A>G | NP_001230395.1:p.Lys242Arg | |
| NM_001243476.3:c.644A>G | NP_001230405.1:p.Lys215Arg | |
| NM_052851.3:c.395A>G | NP_443083.1:p.Lys132Arg | |
| NM_178007.3:c.725A>G | NP_821075.1:p.Lys242Arg | |
| NM_001243474.2:c.395A>G | NP_001230403.1:p.Lys132Arg |