Linked Data
ClinVar Variation Id:
489557
dbSNP Id:
rs925428128
gnomAD v2:
11-108172523-T-A
gnomAD v3:
11-108301796-T-A
gnomAD v4:
11-108301796-T-A
MyVariant Identifiers:
chr11:g.108172523T>A (hg19)
chr11:g.108172523_108172526delinsAAAG (hg19)
chr11:g.108301796T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108301796T>A , CM000673.2:g.108301796T>A | GRCh38 |
| NC_000011.9:g.108172523T>A , CM000673.1:g.108172523T>A | GRCh37 |
| NC_000011.8:g.107677733T>A | NCBI36 |
| NG_009830.1:g.83965T>A , LRG_135:g.83965T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5319+7T>A | ENSP00000388058.2:n.5319+7T>A | |
| ENST00000713593.1:c.*4790+7T>A | ENSP00000518889.1:n.*4790+7T>A | |
| ENST00000278616.9:c.5319+7T>A | ENSP00000278616.4:n.5319+7T>A | |
| ENST00000683174.1:n.6803+7T>A | ||
| ENST00000683524.1:n.543+7T>A | ||
| ENST00000684152.1:n.1033+7T>A | ||
| ENST00000527805.6:c.*383+7T>A | ENSP00000435747.2:n.*383+7T>A | |
| ENST00000675595.1:c.*383+7T>A | ENSP00000502563.1:n.*383+7T>A | |
| ENST00000675843.1:c.5319+7T>A MANE Select | ENSP00000501606.1:n.5319+7T>A | |
| ENST00000278616.8:c.5319+7T>A | ENSP00000278616.4:n.5319+7T>A | |
| ENST00000452508.6:c.5319+7T>A | ENSP00000388058.2:n.5319+7T>A | |
| ENST00000524792.5:n.1534+7T>A | ||
| ENST00000533690.5:n.723+7T>A | ||
| ENST00000534625.1:n.548+7T>A | ||
| NM_000051.3:c.5319+7T>A , LRG_135t1:c.5319+7T>A | NP_000042.3:n.5319+7T>A | |
| XM_005271561.3:c.5319+7T>A | XP_005271618.2:n.5319+7T>A | |
| XM_005271562.3:c.5319+7T>A | XP_005271619.2:n.5319+7T>A | |
| XM_006718843.2:c.5319+7T>A | XP_006718906.1:n.5319+7T>A | |
| XM_006718845.1:c.1275+7T>A | XP_006718908.1:n.1275+7T>A | |
| XM_011542840.1:c.5319+7T>A | XP_011541142.1:n.5319+7T>A | |
| XM_011542841.1:c.5319+7T>A | XP_011541143.1:n.5319+7T>A | |
| XM_011542842.1:c.5154+7T>A | XP_011541144.1:n.5154+7T>A | |
| XM_011542843.1:c.5319+7T>A | XP_011541145.1:n.5319+7T>A | |
| XM_011542844.1:c.4275+7T>A | XP_011541146.1:n.4275+7T>A | |
| XM_011542845.1:c.4011+7T>A | XP_011541147.1:n.4011+7T>A | |
| XM_011542846.1:c.5318+8T>A | XP_011541148.1:n.5318+8T>A | |
| XM_011542847.1:c.390+7T>A | XP_011541149.1:n.390+7T>A | |
| NM_001351834.1:c.5319+7T>A | NP_001338763.1:n.5319+7T>A | |
| XM_005271562.5:c.5319+7T>A | XP_005271619.2:n.5319+7T>A | |
| XM_006718843.4:c.5319+7T>A | XP_006718906.1:n.5319+7T>A | |
| XM_006718845.2:c.1275+7T>A | XP_006718908.1:n.1275+7T>A | |
| XM_011542840.3:c.5319+7T>A | XP_011541142.1:n.5319+7T>A | |
| XM_011542842.3:c.5154+7T>A | XP_011541144.1:n.5154+7T>A | |
| XM_011542843.2:c.5319+7T>A | XP_011541145.1:n.5319+7T>A | |
| XM_011542844.3:c.4275+7T>A | XP_011541146.1:n.4275+7T>A | |
| XM_011542845.2:c.4011+7T>A | XP_011541147.1:n.4011+7T>A | |
| XM_017017789.2:c.5319+7T>A | XP_016873278.1:n.5319+7T>A | |
| XM_017017790.2:c.5319+7T>A | XP_016873279.1:n.5319+7T>A | |
| XM_017017791.1:c.5319+7T>A | XP_016873280.1:n.5319+7T>A | |
| XM_017017792.2:c.5326T>A | XP_016873281.1:p.Ter1776Lys | |
| XR_002957150.1:n.5919+7T>A | ||
| NM_001351834.2:c.5319+7T>A | NP_001338763.1:n.5319+7T>A | |
| NM_000051.4:c.5319+7T>A MANE Select | NP_000042.3:n.5319+7T>A |