Linked Data
ClinVar Variation Id:
540145
ClinVar RCV Id:
RCV000650086
dbSNP Id:
rs753915750
ExAC:
2:175431874 G / A
gnomAD v2:
2-175431874-G-A
gnomAD v3:
2-174567146-G-A
gnomAD v4:
2-174567146-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174567146G>A , CM000664.2:g.174567146G>A | GRCh38 |
| NC_000002.11:g.175431874G>A , CM000664.1:g.175431874G>A | GRCh37 |
| NC_000002.10:g.175140120G>A | NCBI36 |
| NG_032009.1:g.120754C>T , LRG_374:g.120754C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436221.2:c.1380C>T | ENSP00000388454.2:p.Ser460= | |
| ENST00000698666.1:n.1385C>T | ||
| ENST00000698667.1:c.1167C>T | ENSP00000513868.1:p.Ser389= | |
| ENST00000698668.1:c.1380C>T | ENSP00000513869.1:p.Ser460= | |
| ENST00000698701.1:c.1380C>T | ENSP00000513882.1:p.Ser460= | |
| ENST00000679041.1:c.1380C>T MANE Select | ENSP00000503603.1:p.Ser460= | |
| ENST00000272746.9:c.1380C>T | ENSP00000272746.5:p.Ser460= | |
| ENST00000359761.7:c.1380C>T | ENSP00000352802.3:p.Ser460= | |
| ENST00000392546.6:c.1380C>T | ENSP00000376329.2:p.Ser460= | |
| ENST00000392547.6:c.1380C>T | ENSP00000376330.2:p.Ser460= | |
| ENST00000409891.5:c.1380C>T | ENSP00000386431.1:p.Ser460= | |
| ENST00000467149.1:n.676C>T | ||
| ENST00000610916.4:c.1377C>T | ENSP00000479992.1:p.Ser459= | |
| NM_001077269.1:c.1380C>T , LRG_374t1:c.1380C>T | NP_001070737.1:p.Ser460= | |
| NM_003387.4:c.1380C>T | NP_003378.3:p.Ser460= | |
| XM_011511780.1:c.1380C>T | XP_011510082.1:p.Ser460= | |
| XM_011511781.1:c.1380C>T | XP_011510083.1:p.Ser460= | |
| XM_011511780.3:c.1380C>T | XP_011510082.1:p.Ser460= | |
| NM_001375832.1:c.1380C>T | NP_001362761.1:p.Ser460= | |
| NM_001375833.1:c.1380C>T | NP_001362762.1:p.Ser460= | |
| NM_001375834.1:c.1380C>T MANE Select | NP_001362763.1:p.Ser460= | |
| NM_001375835.1:c.1380C>T | NP_001362764.1:p.Ser460= | |
| NM_001375839.1:c.1002C>T | NP_001362768.1:p.Ser334= | |
| NM_003387.5:c.1380C>T | NP_003378.3:p.Ser460= |