Linked Data
ClinVar Variation Id:
434131
dbSNP Id:
rs553507775
ExAC:
2:73718546 A / T
gnomAD v2:
2-73718546-A-T
gnomAD v3:
2-73491419-A-T
gnomAD v4:
2-73491419-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73491419A>T , CM000664.2:g.73491419A>T | GRCh38 |
| NC_000002.11:g.73718546A>T , CM000664.1:g.73718546A>T | GRCh37 |
| NC_000002.10:g.73572054A>T | NCBI36 |
| NG_011690.1:g.110667A>T , LRG_741:g.110667A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.9079A>T | ENSP00000507671.1:p.Thr3027Ser | |
| ENST00000682801.1:c.9079A>T | ENSP00000507862.1:p.Thr3027Ser | |
| ENST00000682859.1:c.9079A>T | ENSP00000508222.1:p.Thr3027Ser | |
| ENST00000683791.1:c.2471A>T | ||
| ENST00000684460.1:c.6531A>T | ||
| ENST00000684548.1:c.9079A>T | ENSP00000507421.1:p.Thr3027Ser | |
| ENST00000684590.1:c.3526A>T | ENSP00000507376.1:p.Thr1176Ser | |
| ENST00000684656.1:c.6531A>T | ||
| ENST00000613296.6:c.9460A>T MANE Select | ENSP00000482968.1:p.Thr3154Ser | |
| ENST00000651434.1:c.896-28356A>T | ||
| ENST00000652487.1:c.557A>T | ||
| ENST00000423048.5:c.3030+1261A>T | ENSP00000399833.1:n.3030+1261A>T | |
| ENST00000484298.5:c.9334A>T | ENSP00000478155.1:p.Thr3112Ser | |
| ENST00000613296.4:c.9460A>T | ENSP00000482968.1:p.Thr3154Ser | |
| ENST00000614410.4:c.9460A>T | ENSP00000479094.1:p.Thr3154Ser | |
| ENST00000620466.4:n.3263A>T | ||
| NM_015120.4:c.9463A>T , LRG_741t1:c.9463A>T | NP_055935.4:p.Thr3155Ser | |
| NM_001378454.1:c.9460A>T MANE Select | NP_001365383.1:p.Thr3154Ser |