gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29712795 (AMR)
Genomes Max Group AF
0.23984244 (AMR)
Exomes Max Group AF
0.31496252 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.105029761G>A , CM000673.2:g.105029761G>A | GRCh38 |
| NC_000011.9:g.104900488G>A , CM000673.1:g.104900488G>A | GRCh37 |
| NC_000011.8:g.104405698G>A | NCBI36 |
| NG_029124.1:g.10370C>T | |
| NG_029124.2:g.10370C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525825.6:c.703C>T | ENSP00000434779.1:p.Leu235= | |
| ENST00000532439.6:c.324C>T | ||
| ENST00000695714.1:c.*254C>T | ENSP00000512113.1:n.*254C>T | |
| ENST00000695715.1:c.649C>T | ENSP00000512114.1:p.Leu217= | |
| ENST00000695716.1:c.*476C>T | ENSP00000512253.1:n.*476C>T | |
| ENST00000695717.1:c.649C>T | ENSP00000512115.1:p.Leu217= | |
| ENST00000695718.1:c.649C>T | ENSP00000512116.1:p.Leu217= | |
| ENST00000695719.1:c.703C>T | ENSP00000512117.1:p.Leu235= | |
| ENST00000695720.1:c.766C>T | ENSP00000512118.1:p.Leu256= | |
| ENST00000695721.1:c.649C>T | ENSP00000512119.1:p.Leu217= | |
| ENST00000695722.1:c.649C>T | ENSP00000512120.1:p.Leu217= | |
| ENST00000533400.6:c.766C>T MANE Select | ENSP00000433138.1:p.Leu256= | |
| ENST00000353247.9:c.59-2810C>T | ENSP00000344132.5:n.59-2810C>T | |
| ENST00000436863.7:c.766C>T | ENSP00000410076.3:p.Leu256= | |
| ENST00000446369.5:c.487C>T | ENSP00000403260.1:p.Leu163= | |
| ENST00000525825.5:c.703C>T | ENSP00000434779.1:p.Leu235= | |
| ENST00000526568.5:c.487C>T | ENSP00000434250.1:p.Leu163= | |
| ENST00000527979.5:c.655C>T | ENSP00000432340.1:p.Leu219= | |
| ENST00000528974.1:c.649C>T | ENSP00000434259.1:p.Leu217= | |
| ENST00000529871.1:c.*254C>T | ENSP00000431947.1:n.*254C>T | |
| ENST00000531166.5:c.59-2810C>T | ENSP00000434303.1:n.59-2810C>T | |
| ENST00000532439.5:c.313C>T | ENSP00000435536.1:p.Leu105= | |
| ENST00000533400.5:c.766C>T | ENSP00000433138.1:p.Leu256= | |
| ENST00000534497.5:c.487C>T | ENSP00000436875.1:p.Leu163= | |
| NM_001223.4:c.703C>T | NP_001214.1:p.Leu235= | |
| NM_001257118.2:c.766C>T | NP_001244047.1:p.Leu256= | |
| NM_001257119.2:c.703C>T | NP_001244048.1:p.Leu235= | |
| NM_033292.3:c.766C>T | NP_150634.1:p.Leu256= | |
| NM_033293.3:c.487C>T | NP_150635.1:p.Leu163= | |
| NM_033294.3:c.487C>T | NP_150636.1:p.Leu163= | |
| NM_033295.3:c.59-2810C>T | NP_150637.1:n.59-2810C>T | |
| XM_006718924.2:c.898C>T | XP_006718987.2:p.Leu300= | |
| XM_011543017.1:c.898C>T | XP_011541319.1:p.Leu300= | |
| XM_011543018.1:c.835C>T | XP_011541320.1:p.Leu279= | |
| XM_017018393.1:c.757C>T | XP_016873882.1:p.Leu253= | |
| XM_017018394.1:c.757C>T | XP_016873883.1:p.Leu253= | |
| XM_017018395.1:c.694C>T | XP_016873884.1:p.Leu232= | |
| XM_017018396.1:c.676C>T | XP_016873885.1:p.Leu226= | |
| NM_001257118.3:c.766C>T MANE Select | NP_001244047.1:p.Leu256= | |
| NM_001223.5:c.703C>T | NP_001214.1:p.Leu235= | |
| NM_001257119.3:c.703C>T | NP_001244048.1:p.Leu235= | |
| NM_033292.4:c.766C>T | NP_150634.1:p.Leu256= | |
| NM_033293.4:c.487C>T | NP_150635.1:p.Leu163= | |
| NM_033294.4:c.487C>T | NP_150636.1:p.Leu163= | |
| NM_033295.4:c.59-2810C>T | NP_150637.1:n.59-2810C>T |