Linked Data
ClinVar Variation Id:
129104
dbSNP Id:
rs29281
ExAC:
X:147011480 G / T
gnomAD v2:
X-147011480-G-T
gnomAD v3:
X-147929961-G-T
gnomAD v4:
X-147929961-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.147929961G>T , CM000685.2:g.147929961G>T | GRCh38 |
| NC_000023.10:g.147011480G>T , CM000685.1:g.147011480G>T | GRCh37 |
| NC_000023.9:g.146819172G>T | NCBI36 |
| NG_007529.1:g.22972G>T | |
| NG_007529.2:g.22971G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475038.3:c.*189G>T | ENSP00000480450.2:n.*189G>T | |
| ENST00000492846.2:n.533G>T | ||
| ENST00000495717.6:c.433G>T | ENSP00000481474.2:p.Ala145Ser | |
| ENST00000616382.5:c.433G>T | ENSP00000481058.2:p.Ala145Ser | |
| ENST00000621453.5:c.433G>T | ENSP00000479528.2:p.Ala145Ser | |
| ENST00000621987.5:c.433G>T | ENSP00000477839.1:p.Ala145Ser | |
| ENST00000685491.1:c.433G>T | ENSP00000509963.1:p.Ala145Ser | |
| ENST00000686086.1:c.361G>T | ENSP00000510759.1:p.Ala121Ser | |
| ENST00000687593.1:c.433G>T | ENSP00000509270.1:p.Ala145Ser | |
| ENST00000689517.1:c.16G>T | ENSP00000510686.1:p.Ala6Ser | |
| ENST00000689570.1:n.533G>T | ||
| ENST00000690137.1:c.433G>T | ENSP00000509813.1:p.Ala145Ser | |
| ENST00000690216.1:c.433G>T | ENSP00000510631.1:p.Ala145Ser | |
| ENST00000691111.1:c.433G>T | ENSP00000509552.1:p.Ala145Ser | |
| ENST00000691214.1:c.433G>T | ENSP00000510362.1:p.Ala145Ser | |
| ENST00000691793.1:n.533G>T | ||
| ENST00000692091.1:c.*189G>T | ENSP00000509221.1:n.*189G>T | |
| ENST00000692108.1:c.178G>T | ENSP00000508963.1:p.Ala60Ser | |
| ENST00000693079.1:n.991G>T | ||
| ENST00000693452.1:c.*189G>T | ENSP00000510026.1:n.*189G>T | |
| ENST00000693512.1:c.433G>T | ENSP00000509589.1:p.Ala145Ser | |
| ENST00000370475.9:c.433G>T MANE Select | ENSP00000359506.5:p.Ala145Ser | |
| ENST00000643620.1:n.821G>T | ||
| ENST00000218200.12:c.433G>T | ENSP00000218200.8:p.Ala145Ser | |
| ENST00000334557.10:c.433G>T | ENSP00000355115.4:p.Ala145Ser | |
| ENST00000370470.5:c.433G>T | ENSP00000359501.1:p.Ala145Ser | |
| ENST00000370471.7:c.433G>T | ENSP00000359502.3:p.Ala145Ser | |
| ENST00000370475.8:c.433G>T | ENSP00000359506.4:p.Ala145Ser | |
| ENST00000370477.5:c.433G>T | ENSP00000359508.1:p.Ala145Ser | |
| ENST00000439526.6:c.433G>T | ENSP00000395923.2:p.Ala145Ser | |
| ENST00000440235.6:c.433G>T | ENSP00000413764.3:p.Ala145Ser | |
| ENST00000495717.5:c.361G>T | ENSP00000481474.1:p.Ala121Ser | |
| ENST00000616382.4:c.433G>T | ENSP00000481058.1:p.Ala145Ser | |
| ENST00000616614.4:c.*339G>T | ENSP00000480513.1:n.*339G>T | |
| ENST00000620828.4:n.1152G>T | ||
| ENST00000621453.4:c.433G>T | ENSP00000479528.1:p.Ala145Ser | |
| ENST00000621987.4:c.433G>T | ENSP00000477839.1:p.Ala145Ser | |
| NM_001185075.1:c.433G>T | NP_001172004.1:p.Ala145Ser | |
| NM_001185076.1:c.433G>T | NP_001172005.1:p.Ala145Ser | |
| NM_001185081.1:c.433G>T | NP_001172010.1:p.Ala145Ser | |
| NM_001185082.1:c.433G>T | NP_001172011.1:p.Ala145Ser | |
| NM_002024.5:c.433G>T | NP_002015.1:p.Ala145Ser | |
| NR_033699.1:n.662G>T | ||
| NR_033700.1:n.662G>T | ||
| NM_001185081.2:c.433G>T | NP_001172010.1:p.Ala145Ser | |
| NM_001185082.2:c.433G>T | NP_001172011.1:p.Ala145Ser | |
| NM_002024.6:c.433G>T MANE Select | NP_002015.1:p.Ala145Ser | |
| NR_033699.2:n.694G>T | ||
| NR_033700.2:n.694G>T | ||
| NM_001185075.2:c.433G>T | NP_001172004.1:p.Ala145Ser | |
| NM_001185076.2:c.433G>T | NP_001172005.1:p.Ala145Ser |