gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Exomes Max Group AF
0.00002374 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10351093G>A , CM000681.2:g.10351093G>A | GRCh38 |
| NC_000019.9:g.10461769G>A , CM000681.1:g.10461769G>A | GRCh37 |
| NC_000019.8:g.10322769G>A | NCBI36 |
| NG_007872.1:g.34480C>T , LRG_121:g.34480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*2059C>T | ENSP00000514307.1:n.*2059C>T | |
| ENST00000525976.6:c.3319-125C>T | ENSP00000434831.2:n.3319-125C>T | |
| ENST00000527481.3:c.*158C>T | ENSP00000466340.2:n.*158C>T | |
| ENST00000529370.6:n.4764C>T | ||
| ENST00000529739.2:n.4519C>T | ||
| ENST00000530829.2:c.*2939C>T | ENSP00000436826.2:n.*2939C>T | |
| ENST00000531836.6:c.3388C>T | ENSP00000436175.2:p.Arg1130Ter | |
| ENST00000533334.2:c.*1312C>T | ENSP00000432320.2:n.*1312C>T | |
| ENST00000534228.2:n.5124C>T | ||
| ENST00000699354.1:n.1490C>T | ||
| ENST00000699355.1:c.*2888C>T | ENSP00000514328.1:n.*2888C>T | |
| ENST00000699356.1:n.4197C>T | ||
| ENST00000699357.1:n.5242C>T | ||
| ENST00000699358.1:c.*69C>T | ENSP00000514329.1:n.*69C>T | |
| ENST00000699359.1:c.562C>T | ||
| ENST00000699360.1:c.3346C>T | ENSP00000514331.1:p.Arg1116Ter | |
| ENST00000699361.1:n.422C>T | ||
| ENST00000699362.1:c.284C>T | ENSP00000514332.1:n.284C>T | |
| ENST00000699363.1:c.265C>T | ENSP00000514333.1:n.265C>T | |
| ENST00000699364.1:n.388C>T | ||
| ENST00000699365.1:c.457C>T | ENSP00000514334.1:p.Arg153Ter | |
| ENST00000699366.1:n.112-125C>T | ||
| ENST00000699367.1:n.181C>T | ||
| ENST00000699368.1:c.875C>T | ENSP00000514335.1:n.875C>T | |
| ENST00000525621.6:c.3388C>T MANE Select | ENSP00000431885.1:p.Arg1130Ter | |
| ENST00000264818.10:c.3388C>T | ENSP00000264818.6:p.Arg1130Ter | |
| ENST00000524462.5:c.2833C>T | ENSP00000433203.1:p.Arg945Ter | |
| ENST00000524470.1:n.193C>T | ||
| ENST00000525621.5:c.3388C>T | ENSP00000431885.1:p.Arg1130Ter | |
| ENST00000525976.5:c.60-125C>T | ||
| ENST00000527481.2:c.565C>T | ||
| ENST00000529422.1:n.317C>T | ||
| ENST00000530220.1:n.332-125C>T | ||
| ENST00000530560.5:c.338-125C>T | ENSP00000465291.1:n.338-125C>T | |
| NM_003331.4:c.3388C>T , LRG_121t1:c.3388C>T | NP_003322.3:p.Arg1130Ter | |
| XM_011528245.1:c.3388C>T | XP_011526547.1:p.Arg1130Ter | |
| XM_011528246.1:c.3091C>T | XP_011526548.1:p.Arg1031Ter | |
| XM_011528247.1:c.3091C>T | XP_011526549.1:p.Arg1031Ter | |
| XM_011528248.1:c.*69C>T | XP_011526550.1:n.*69C>T | |
| XM_011528249.1:c.2062C>T | XP_011526551.1:p.Arg688Ter | |
| XM_011528251.1:c.1645C>T | XP_011526553.1:p.Arg549Ter | |
| XM_011528246.3:c.3091C>T | XP_011526548.1:p.Arg1031Ter | |
| XM_011528249.2:c.2062C>T | XP_011526551.1:p.Arg688Ter | |
| XR_001753750.1:n.3427C>T | ||
| XR_001753751.1:n.4262C>T | ||
| XR_002958353.1:n.4866C>T | ||
| NM_003331.5:c.3388C>T MANE Select | NP_003322.3:p.Arg1130Ter | |
| NM_001385197.1:c.3319-125C>T | NP_001372126.1:n.3319-125C>T | |
| NM_001385198.1:c.3238C>T | NP_001372127.1:p.Arg1080Ter | |
| NM_001385199.1:c.3202C>T | NP_001372128.1:p.Arg1068Ter | |
| NM_001385200.1:c.3385C>T | NP_001372129.1:p.Arg1129Ter | |
| NM_001385201.1:c.3190C>T | NP_001372130.1:p.Arg1064Ter | |
| NM_001385202.1:c.3304C>T | NP_001372131.1:p.Arg1102Ter | |
| NM_001385203.1:c.3469C>T | NP_001372132.1:p.Arg1157Ter | |
| NM_001385204.1:c.3598C>T | NP_001372133.1:p.Arg1200Ter | |
| NM_001385205.1:c.3298C>T | NP_001372134.1:p.Arg1100Ter | |
| NM_001385206.1:c.3262C>T | NP_001372135.1:p.Arg1088Ter | |
| NM_001385207.1:c.3370C>T | NP_001372136.1:p.Arg1124Ter |