Linked Data
dbSNP Id:
rs879543292
gnomAD v2:
11-108093590-C-T
gnomAD v3:
11-108222863-C-T
gnomAD v4:
11-108222863-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108222863C>T , CM000673.2:g.108222863C>T | GRCh38 |
| NC_000011.9:g.108093590C>T , CM000673.1:g.108093590C>T | GRCh37 |
| NC_000011.8:g.107598800C>T | NCBI36 |
| NG_009830.1:g.5032C>T , LRG_135:g.5032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.-442C>T | ENSP00000388058.2:n.-442C>T | |
| ENST00000683914.2:c.-354C>T | ENSP00000507649.1:n.-354C>T | |
| ENST00000278616.8:c.-354C>T | ENSP00000278616.4:n.-354C>T | |
| ENST00000527805.5:c.-354C>T | ENSP00000435747.1:n.-354C>T | |
| NM_000051.3:c.-354C>T , LRG_135t1:c.-354C>T | NP_000042.3:n.-354C>T | |
| XM_011542843.1:c.-354C>T | XP_011541145.1:n.-354C>T | |
| XM_011542846.1:c.-354C>T | XP_011541148.1:n.-354C>T | |
| NM_001351834.1:c.-442C>T | NP_001338763.1:n.-442C>T | |
| NM_001351835.1:c.-354C>T | NP_001338764.1:n.-354C>T | |
| XM_011542842.3:c.-354C>T | XP_011541144.1:n.-354C>T | |
| XM_011542843.2:c.-354C>T | XP_011541145.1:n.-354C>T | |
| XM_011542844.3:c.-1376C>T | XP_011541146.1:n.-1376C>T | |
| XM_017017791.1:c.-354C>T | XP_016873280.1:n.-354C>T | |
| XM_017017792.2:c.-354C>T | XP_016873281.1:n.-354C>T | |
| XR_002957150.1:n.380C>T |