Linked Data
ClinVar Variation Id:
447730
dbSNP Id:
rs572010627
ExAC:
1:161276528 A / T
gnomAD v2:
1-161276528-A-T
gnomAD v4:
1-161306738-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306738A>T , CM000663.2:g.161306738A>T | GRCh38 |
| NC_000001.10:g.161276528A>T , CM000663.1:g.161276528A>T | GRCh37 |
| NC_000001.9:g.159543152A>T | NCBI36 |
| NG_008055.1:g.8235T>A , LRG_256:g.8235T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.367+51T>A | ENSP00000488104.2:n.367+51T>A | |
| ENST00000533357.5:c.418T>A MANE Select | ENSP00000432943.1:p.Ser140Thr | |
| ENST00000672287.2:c.-171T>A | ENSP00000499818.2:n.-171T>A | |
| ENST00000672602.2:c.418T>A | ENSP00000500814.2:p.Ser140Thr | |
| ENST00000674861.1:n.481T>A | ||
| ENST00000463290.5:c.418T>A | ENSP00000431538.1:p.Ser140Thr | |
| ENST00000491222.5:c.-171T>A | ENSP00000431441.1:n.-171T>A | |
| ENST00000526189.2:c.111+51T>A | ||
| ENST00000533357.4:c.418T>A | ENSP00000432943.1:p.Ser140Thr | |
| NM_000530.6:c.418T>A , LRG_256t1:c.418T>A | NP_000521.2:p.Ser140Thr | |
| NM_000530.7:c.418T>A | NP_000521.2:p.Ser140Thr | |
| NM_001315491.1:c.418T>A | NP_001302420.1:p.Ser140Thr | |
| XM_017001321.2:c.448T>A | XP_016856810.1:p.Ser150Thr | |
| NM_000530.8:c.418T>A MANE Select | NP_000521.2:p.Ser140Thr | |
| NM_001315491.2:c.418T>A | NP_001302420.1:p.Ser140Thr |