Linked Data
ClinVar Variation Id:
223458
ClinVar RCV Id:
RCV000209757
dbSNP Id:
rs552689366
gnomAD v2:
11-108095042-T-A
gnomAD v3:
11-108224315-T-A
gnomAD v4:
11-108224315-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108224315T>A , CM000673.2:g.108224315T>A | GRCh38 |
| NC_000011.9:g.108095042T>A , CM000673.1:g.108095042T>A | GRCh37 |
| NC_000011.8:g.107600252T>A | NCBI36 |
| NG_009830.1:g.6484T>A , LRG_135:g.6484T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.-118-469T>A | ENSP00000388058.2:n.-118-469T>A | |
| ENST00000683914.2:c.-31+1129T>A | ENSP00000507649.1:n.-31+1129T>A | |
| ENST00000713593.1:c.-31+1129T>A | ENSP00000518889.1:n.-31+1129T>A | |
| ENST00000278616.9:c.-31+629T>A | ENSP00000278616.4:n.-31+629T>A | |
| ENST00000682430.1:n.69+179T>A | ||
| ENST00000683150.1:c.-31+629T>A | ENSP00000507125.1:n.-31+629T>A | |
| ENST00000683174.1:n.120+1129T>A | ||
| ENST00000683468.1:c.-3310T>A | ENSP00000508178.1:n.-3310T>A | |
| ENST00000683488.1:n.1272T>A | ||
| ENST00000683914.1:c.-31+1129T>A | ENSP00000507649.1:n.-31+1129T>A | |
| ENST00000527805.6:c.-31+1129T>A | ENSP00000435747.2:n.-31+1129T>A | |
| ENST00000639240.1:c.-114-469T>A | ENSP00000491585.1:n.-114-469T>A | |
| ENST00000639953.1:c.-202-469T>A | ENSP00000492487.1:n.-202-469T>A | |
| ENST00000640388.1:c.-192-469T>A | ENSP00000492354.1:n.-192-469T>A | |
| ENST00000675595.1:c.-31+1129T>A | ENSP00000502563.1:n.-31+1129T>A | |
| ENST00000675843.1:c.-31+1129T>A MANE Select | ENSP00000501606.1:n.-31+1129T>A | |
| ENST00000278616.8:c.-31+1129T>A | ENSP00000278616.4:n.-31+1129T>A | |
| ENST00000452508.6:c.-118-469T>A | ENSP00000388058.2:n.-118-469T>A | |
| ENST00000526567.5:c.-31+629T>A | ENSP00000480205.1:n.-31+629T>A | |
| ENST00000527805.5:c.-31+1129T>A | ENSP00000435747.1:n.-31+1129T>A | |
| ENST00000527891.5:c.-31+1129T>A | ENSP00000433955.1:n.-31+1129T>A | |
| ENST00000530958.5:c.-3310T>A | ENSP00000483338.1:n.-3310T>A | |
| ENST00000532931.5:c.-105+1129T>A | ENSP00000432318.1:n.-105+1129T>A | |
| ENST00000601453.2:c.-119+179T>A | ENSP00000469471.1:n.-119+179T>A | |
| NM_000051.3:c.-31+1129T>A , LRG_135t1:c.-31+1129T>A | NP_000042.3:n.-31+1129T>A | |
| XM_005271561.3:c.-118-469T>A | XP_005271618.2:n.-118-469T>A | |
| XM_005271562.3:c.-31+629T>A | XP_005271619.2:n.-31+629T>A | |
| XM_006718843.2:c.-31+179T>A | XP_006718906.1:n.-31+179T>A | |
| XM_011542840.1:c.-119+179T>A | XP_011541142.1:n.-119+179T>A | |
| XM_011542841.1:c.-821-469T>A | XP_011541143.1:n.-821-469T>A | |
| XM_011542842.1:c.-31+1129T>A | XP_011541144.1:n.-31+1129T>A | |
| XM_011542843.1:c.-31+1129T>A | XP_011541145.1:n.-31+1129T>A | |
| XM_011542846.1:c.-31+1129T>A | XP_011541148.1:n.-31+1129T>A | |
| NM_001351834.1:c.-118-469T>A | NP_001338763.1:n.-118-469T>A | |
| NM_001351835.1:c.-31+1129T>A | NP_001338764.1:n.-31+1129T>A | |
| NM_001351836.1:c.-31+629T>A | NP_001338765.1:n.-31+629T>A | |
| XM_005271562.5:c.-31+629T>A | XP_005271619.2:n.-31+629T>A | |
| XM_006718843.4:c.-31+179T>A | XP_006718906.1:n.-31+179T>A | |
| XM_011542840.3:c.-119+179T>A | XP_011541142.1:n.-119+179T>A | |
| XM_011542842.3:c.-31+1129T>A | XP_011541144.1:n.-31+1129T>A | |
| XM_011542843.2:c.-31+1129T>A | XP_011541145.1:n.-31+1129T>A | |
| XM_011542844.3:c.-1053+1129T>A | XP_011541146.1:n.-1053+1129T>A | |
| XM_017017789.2:c.-822+179T>A | XP_016873278.1:n.-822+179T>A | |
| XM_017017790.2:c.-31+311T>A | XP_016873279.1:n.-31+311T>A | |
| XM_017017791.1:c.-31+1129T>A | XP_016873280.1:n.-31+1129T>A | |
| XM_017017792.2:c.-31+1129T>A | XP_016873281.1:n.-31+1129T>A | |
| XR_002957150.1:n.703+1129T>A | ||
| NM_001351834.2:c.-118-469T>A | NP_001338763.1:n.-118-469T>A | |
| NM_000051.4:c.-31+1129T>A MANE Select | NP_000042.3:n.-31+1129T>A | |
| NM_001351835.2:c.-31+1129T>A | NP_001338764.1:n.-31+1129T>A | |
| NM_001351836.2:c.-31+629T>A | NP_001338765.1:n.-31+629T>A |