Linked Data
dbSNP Id:
rs1452185678
gnomAD v2:
11-108093946-C-T
gnomAD v3:
11-108223219-C-T
gnomAD v4:
11-108223219-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108223219C>T , CM000673.2:g.108223219C>T | GRCh38 |
| NC_000011.9:g.108093946C>T , CM000673.1:g.108093946C>T | GRCh37 |
| NC_000011.8:g.107599156C>T | NCBI36 |
| NG_009830.1:g.5388C>T , LRG_135:g.5388C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.-119+33C>T | ENSP00000388058.2:n.-119+33C>T | |
| ENST00000683914.2:c.-31+33C>T | ENSP00000507649.1:n.-31+33C>T | |
| ENST00000713593.1:c.-31+33C>T | ENSP00000518889.1:n.-31+33C>T | |
| ENST00000683150.1:c.-182+33C>T | ENSP00000507125.1:n.-182+33C>T | |
| ENST00000683174.1:n.120+33C>T | ||
| ENST00000683468.1:c.-4406C>T | ENSP00000508178.1:n.-4406C>T | |
| ENST00000683488.1:n.176C>T | ||
| ENST00000683914.1:c.-31+33C>T | ENSP00000507649.1:n.-31+33C>T | |
| ENST00000527805.6:c.-31+33C>T | ENSP00000435747.2:n.-31+33C>T | |
| ENST00000639240.1:c.-115+33C>T | ENSP00000491585.1:n.-115+33C>T | |
| ENST00000639953.1:c.-203+33C>T | ENSP00000492487.1:n.-203+33C>T | |
| ENST00000640388.1:c.-193+33C>T | ENSP00000492354.1:n.-193+33C>T | |
| ENST00000675595.1:c.-31+33C>T | ENSP00000502563.1:n.-31+33C>T | |
| ENST00000675843.1:c.-31+33C>T MANE Select | ENSP00000501606.1:n.-31+33C>T | |
| ENST00000278616.8:c.-31+33C>T | ENSP00000278616.4:n.-31+33C>T | |
| ENST00000452508.6:c.-119+33C>T | ENSP00000388058.2:n.-119+33C>T | |
| ENST00000527805.5:c.-31+33C>T | ENSP00000435747.1:n.-31+33C>T | |
| ENST00000527891.5:c.-31+33C>T | ENSP00000433955.1:n.-31+33C>T | |
| ENST00000530958.5:c.-4406C>T | ENSP00000483338.1:n.-4406C>T | |
| ENST00000532931.5:c.-105+33C>T | ENSP00000432318.1:n.-105+33C>T | |
| NM_000051.3:c.-31+33C>T , LRG_135t1:c.-31+33C>T | NP_000042.3:n.-31+33C>T | |
| XM_005271561.3:c.-119+33C>T | XP_005271618.2:n.-119+33C>T | |
| XM_005271562.3:c.-498C>T | XP_005271619.2:n.-498C>T | |
| XM_011542841.1:c.-822+33C>T | XP_011541143.1:n.-822+33C>T | |
| XM_011542842.1:c.-31+33C>T | XP_011541144.1:n.-31+33C>T | |
| XM_011542843.1:c.-31+33C>T | XP_011541145.1:n.-31+33C>T | |
| XM_011542846.1:c.-31+33C>T | XP_011541148.1:n.-31+33C>T | |
| NM_001351834.1:c.-119+33C>T | NP_001338763.1:n.-119+33C>T | |
| NM_001351835.1:c.-31+33C>T | NP_001338764.1:n.-31+33C>T | |
| XM_005271562.5:c.-498C>T | XP_005271619.2:n.-498C>T | |
| XM_011542842.3:c.-31+33C>T | XP_011541144.1:n.-31+33C>T | |
| XM_011542843.2:c.-31+33C>T | XP_011541145.1:n.-31+33C>T | |
| XM_011542844.3:c.-1053+33C>T | XP_011541146.1:n.-1053+33C>T | |
| XM_017017791.1:c.-31+33C>T | XP_016873280.1:n.-31+33C>T | |
| XM_017017792.2:c.-31+33C>T | XP_016873281.1:n.-31+33C>T | |
| XR_002957150.1:n.703+33C>T | ||
| NM_001351834.2:c.-119+33C>T | NP_001338763.1:n.-119+33C>T | |
| NM_000051.4:c.-31+33C>T MANE Select | NP_000042.3:n.-31+33C>T | |
| NM_001351835.2:c.-31+33C>T | NP_001338764.1:n.-31+33C>T |