ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003775 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.0000389 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108304801C>T , CM000673.2:g.108304801C>T | GRCh38 |
| NC_000011.9:g.108175528C>T , CM000673.1:g.108175528C>T | GRCh37 |
| NC_000011.8:g.107680738C>T | NCBI36 |
| NG_009830.1:g.86970C>T , LRG_135:g.86970C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5623C>T | ENSP00000388058.2:p.Arg1875Ter | |
| ENST00000713593.1:c.*5094C>T | ENSP00000518889.1:n.*5094C>T | |
| ENST00000278616.9:c.5623C>T | ENSP00000278616.4:p.Arg1875Ter | |
| ENST00000683174.1:n.7107C>T | ||
| ENST00000683524.1:n.847C>T | ||
| ENST00000684152.1:n.1337C>T | ||
| ENST00000527805.6:c.*687C>T | ENSP00000435747.2:n.*687C>T | |
| ENST00000675595.1:c.*687C>T | ENSP00000502563.1:n.*687C>T | |
| ENST00000675843.1:c.5623C>T MANE Select | ENSP00000501606.1:p.Arg1875Ter | |
| ENST00000278616.8:c.5623C>T | ENSP00000278616.4:p.Arg1875Ter | |
| ENST00000452508.6:c.5623C>T | ENSP00000388058.2:p.Arg1875Ter | |
| ENST00000524792.5:n.1838C>T | ||
| ENST00000529588.5:c.135C>T | ||
| ENST00000533690.5:n.1027C>T | ||
| NM_000051.3:c.5623C>T , LRG_135t1:c.5623C>T | NP_000042.3:p.Arg1875Ter | |
| XM_005271561.3:c.5623C>T | XP_005271618.2:p.Arg1875Ter | |
| XM_005271562.3:c.5623C>T | XP_005271619.2:p.Arg1875Ter | |
| XM_006718843.2:c.5623C>T | XP_006718906.1:p.Arg1875Ter | |
| XM_006718845.1:c.1579C>T | XP_006718908.1:p.Arg527Ter | |
| XM_011542840.1:c.5623C>T | XP_011541142.1:p.Arg1875Ter | |
| XM_011542841.1:c.5623C>T | XP_011541143.1:p.Arg1875Ter | |
| XM_011542842.1:c.5458C>T | XP_011541144.1:p.Arg1820Ter | |
| XM_011542843.1:c.5623C>T | XP_011541145.1:p.Arg1875Ter | |
| XM_011542844.1:c.4579C>T | XP_011541146.1:p.Arg1527Ter | |
| XM_011542845.1:c.4315C>T | XP_011541147.1:p.Arg1439Ter | |
| XM_011542847.1:c.694C>T | XP_011541149.1:p.Arg232Ter | |
| NM_001351834.1:c.5623C>T | NP_001338763.1:p.Arg1875Ter | |
| XM_005271562.5:c.5623C>T | XP_005271619.2:p.Arg1875Ter | |
| XM_006718843.4:c.5623C>T | XP_006718906.1:p.Arg1875Ter | |
| XM_006718845.2:c.1579C>T | XP_006718908.1:p.Arg527Ter | |
| XM_011542840.3:c.5623C>T | XP_011541142.1:p.Arg1875Ter | |
| XM_011542842.3:c.5458C>T | XP_011541144.1:p.Arg1820Ter | |
| XM_011542843.2:c.5623C>T | XP_011541145.1:p.Arg1875Ter | |
| XM_011542844.3:c.4579C>T | XP_011541146.1:p.Arg1527Ter | |
| XM_011542845.2:c.4315C>T | XP_011541147.1:p.Arg1439Ter | |
| XM_017017789.2:c.5623C>T | XP_016873278.1:p.Arg1875Ter | |
| XM_017017790.2:c.5623C>T | XP_016873279.1:p.Arg1875Ter | |
| XM_017017791.1:c.5623C>T | XP_016873280.1:p.Arg1875Ter | |
| XR_002957150.1:n.6223C>T | ||
| NM_001351834.2:c.5623C>T | NP_001338763.1:p.Arg1875Ter | |
| NM_000051.4:c.5623C>T MANE Select | NP_000042.3:p.Arg1875Ter |