gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000128 (NFE)
Exomes Max Group AF
0.00000136 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34236719G>A , CM000677.2:g.34236719G>A | GRCh38 |
| NC_000015.9:g.34528920G>A , CM000677.1:g.34528920G>A | GRCh37 |
| NC_000015.8:g.32316212G>A | NCBI36 |
| NG_007951.1:g.106346C>T , LRG_270:g.106346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.3031C>T MANE Select | ENSP00000346112.3:p.Arg1011Ter | |
| ENST00000676379.1:c.3031C>T | ENSP00000502539.1:p.Arg1011Ter | |
| ENST00000290209.9:c.2878C>T | ENSP00000290209.5:p.Arg960Ter | |
| ENST00000354181.7:c.3031C>T | ENSP00000346112.3:p.Arg1011Ter | |
| ENST00000397702.6:c.2854C>T | ENSP00000380814.2:p.Arg952Ter | |
| ENST00000397707.6:c.2986C>T | ENSP00000380819.2:p.Arg996Ter | |
| ENST00000458406.6:c.2854C>T | ENSP00000387725.2:p.Arg952Ter | |
| ENST00000558589.5:c.3004C>T | ENSP00000452776.1:p.Arg1002Ter | |
| ENST00000558667.5:c.3031C>T | ENSP00000453473.1:p.Arg1011Ter | |
| ENST00000559523.5:c.*54C>T | ENSP00000452904.1:n.*54C>T | |
| ENST00000559664.5:c.*240C>T | ENSP00000453702.1:n.*240C>T | |
| ENST00000560164.5:c.2467C>T | ENSP00000452705.1:p.Arg823Ter | |
| ENST00000560611.5:c.3031C>T | ENSP00000454168.1:p.Arg1011Ter | |
| ENST00000561080.5:c.*269C>T | ENSP00000454069.1:n.*269C>T | |
| NM_001042494.1:c.2854C>T | NP_001035959.1:p.Arg952Ter | |
| NM_001042495.1:c.2854C>T | NP_001035960.1:p.Arg952Ter | |
| NM_001042496.1:c.3004C>T | NP_001035961.1:p.Arg1002Ter | |
| NM_001042497.1:c.2986C>T | NP_001035962.1:p.Arg996Ter | |
| NM_005135.2:c.2878C>T , LRG_270t1:c.2878C>T | NP_005126.1:p.Arg960Ter | |
| NM_133647.1:c.3031C>T , LRG_270t2:c.3031C>T | NP_598408.1:p.Arg1011Ter | |
| XM_006720793.2:c.2884C>T | XP_006720856.1:p.Arg962Ter | |
| XM_011522267.1:c.3031C>T | XP_011520569.1:p.Arg1011Ter | |
| XM_011522268.1:c.3031C>T | XP_011520570.1:p.Arg1011Ter | |
| XR_429476.2:n.3037C>T | ||
| XR_931960.1:n.3066C>T | ||
| NM_001365088.1:c.3031C>T MANE Select | NP_001352017.1:p.Arg1011Ter | |
| XM_006720793.4:c.2884C>T | XP_006720856.1:p.Arg962Ter | |
| XR_931960.3:n.4310C>T | ||
| NM_001042494.2:c.2854C>T | NP_001035959.1:p.Arg952Ter | |
| NM_001042495.2:c.2854C>T | NP_001035960.1:p.Arg952Ter | |
| NM_001042496.2:c.3004C>T | NP_001035961.1:p.Arg1002Ter | |
| NM_001042497.2:c.2986C>T | NP_001035962.1:p.Arg996Ter | |
| NM_133647.2:c.3031C>T | NP_598408.1:p.Arg1011Ter |