Linked Data
ClinVar Variation Id:
2136321
ClinVar RCV Id:
RCV003037113
dbSNP Id:
rs1201473032
gnomAD v3:
5-126549986-A-T
gnomAD v4:
5-126549986-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126549986A>T , CM000667.2:g.126549986A>T | GRCh38 |
| NC_000005.9:g.125885678A>T , CM000667.1:g.125885678A>T | GRCh37 |
| NC_000005.8:g.125913577A>T | NCBI36 |
| NG_008600.2:g.50405T>A | |
| NG_008600.3:g.50405T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1432T>A MANE Select | ENSP00000387123.3:p.Cys478Ser | |
| ENST00000458249.6:c.*1341T>A | ENSP00000403929.1:n.*1341T>A | |
| ENST00000485852.7:n.179T>A | ||
| ENST00000497231.7:n.1859T>A | ||
| ENST00000635851.1:c.1430T>A | ||
| ENST00000636062.1:n.1327T>A | ||
| ENST00000636225.1:c.*1376T>A | ENSP00000490797.1:n.*1376T>A | |
| ENST00000636286.1:n.1197T>A | ||
| ENST00000636482.1:n.966T>A | ||
| ENST00000636743.1:c.1312T>A | ENSP00000489725.1:p.Cys438Ser | |
| ENST00000636808.1:c.*1241T>A | ENSP00000490833.1:n.*1241T>A | |
| ENST00000636872.1:c.1592T>A | ENSP00000490919.1:n.1592T>A | |
| ENST00000636879.1:c.1477T>A | ENSP00000490811.1:p.Cys493Ser | |
| ENST00000636886.1:c.1231T>A | ENSP00000490371.1:p.Cys411Ser | |
| ENST00000637206.1:c.1252T>A | ENSP00000489895.1:p.Cys418Ser | |
| ENST00000637272.1:c.1423T>A | ENSP00000489686.1:p.Cys475Ser | |
| ENST00000637292.1:c.888T>A | ||
| ENST00000637782.1:c.1432T>A | ENSP00000490024.1:p.Cys478Ser | |
| ENST00000638008.1:c.*1276T>A | ENSP00000490400.1:n.*1276T>A | |
| ENST00000638010.1:n.1378T>A | ||
| ENST00000409134.7:c.1432T>A | ENSP00000387123.3:p.Cys478Ser | |
| ENST00000447989.6:c.1321T>A | ENSP00000414132.2:p.Cys441Ser | |
| ENST00000476328.1:n.390T>A | ||
| ENST00000485852.6:n.179T>A | ||
| ENST00000497231.6:n.1642T>A | ||
| ENST00000553117.5:c.1240T>A | ENSP00000448593.1:p.Cys414Ser | |
| NM_001182.4:c.1432T>A | NP_001173.2:p.Cys478Ser | |
| NM_001201377.1:c.1348T>A | NP_001188306.1:p.Cys450Ser | |
| NM_001202404.1:c.1321T>A | NP_001189333.1:p.Cys441Ser | |
| XM_011543417.1:c.1027T>A | XP_011541719.1:p.Cys343Ser | |
| XM_011543417.2:c.1027T>A | XP_011541719.1:p.Cys343Ser | |
| NM_001182.5:c.1432T>A MANE Select | NP_001173.2:p.Cys478Ser | |
| NM_001201377.2:c.1348T>A | NP_001188306.1:p.Cys450Ser | |
| NM_001202404.2:c.1240T>A | NP_001189333.2:p.Cys414Ser |