Linked Data
ClinVar Variation Id:
1519278
ClinVar RCV Id:
RCV002043679
dbSNP Id:
rs745592760
ExAC:
5:125882017 A / T
gnomAD v2:
5-125882017-A-T
gnomAD v4:
5-126546325-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126546325A>T , CM000667.2:g.126546325A>T | GRCh38 |
| NC_000005.9:g.125882017A>T , CM000667.1:g.125882017A>T | GRCh37 |
| NC_000005.8:g.125909916A>T | NCBI36 |
| NG_008600.2:g.54066T>A | |
| NG_008600.3:g.54066T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1564T>A MANE Select | ENSP00000387123.3:p.Cys522Ser | |
| ENST00000458249.6:c.*1473T>A | ENSP00000403929.1:n.*1473T>A | |
| ENST00000485852.7:n.311T>A | ||
| ENST00000497231.7:n.1991T>A | ||
| ENST00000635851.1:c.1562T>A | ||
| ENST00000636286.1:n.1329T>A | ||
| ENST00000636482.1:n.1098T>A | ||
| ENST00000636743.1:c.1444T>A | ENSP00000489725.1:p.Cys482Ser | |
| ENST00000636808.1:c.*1373T>A | ENSP00000490833.1:n.*1373T>A | |
| ENST00000636872.1:c.1724T>A | ENSP00000490919.1:n.1724T>A | |
| ENST00000636879.1:c.1609T>A | ENSP00000490811.1:p.Cys537Ser | |
| ENST00000636886.1:c.1363T>A | ENSP00000490371.1:p.Cys455Ser | |
| ENST00000637206.1:c.1384T>A | ENSP00000489895.1:p.Cys462Ser | |
| ENST00000637272.1:c.1555T>A | ENSP00000489686.1:p.Cys519Ser | |
| ENST00000637292.1:c.1020T>A | ||
| ENST00000637782.1:c.1564T>A | ENSP00000490024.1:p.Ter522Arg | |
| ENST00000638008.1:c.*1408T>A | ENSP00000490400.1:n.*1408T>A | |
| ENST00000638010.1:n.1510T>A | ||
| ENST00000409134.7:c.1564T>A | ENSP00000387123.3:p.Cys522Ser | |
| ENST00000447989.6:c.1453T>A | ENSP00000414132.2:p.Cys485Ser | |
| ENST00000485852.6:n.311T>A | ||
| ENST00000497231.6:n.1774T>A | ||
| ENST00000553117.5:c.1372T>A | ENSP00000448593.1:p.Cys458Ser | |
| NM_001182.4:c.1564T>A | NP_001173.2:p.Cys522Ser | |
| NM_001201377.1:c.1480T>A | NP_001188306.1:p.Cys494Ser | |
| NM_001202404.1:c.1453T>A | NP_001189333.1:p.Cys485Ser | |
| XM_011543417.1:c.1159T>A | XP_011541719.1:p.Cys387Ser | |
| XM_011543417.2:c.1159T>A | XP_011541719.1:p.Cys387Ser | |
| NM_001182.5:c.1564T>A MANE Select | NP_001173.2:p.Cys522Ser | |
| NM_001201377.2:c.1480T>A | NP_001188306.1:p.Cys494Ser | |
| NM_001202404.2:c.1372T>A | NP_001189333.2:p.Cys458Ser |