Linked Data
ClinVar Variation Id:
495833
dbSNP Id:
rs187925143
ExAC:
5:70247798 T / A
gnomAD v2:
5-70247798-T-A
gnomAD v3:
5-70951971-T-A
gnomAD v4:
5-70951971-T-A
PubMed:
PMID:21811307
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70951971T>A , CM000667.2:g.70951971T>A | GRCh38 |
| NC_000005.9:g.70247798T>A , CM000667.1:g.70247798T>A | GRCh37 |
| NC_000005.8:g.70283554T>A | NCBI36 |
| NG_008691.1:g.32031T>A , LRG_676:g.32031T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380707.9:c.865T>A MANE Select | ENSP00000370083.4:p.Cys289Ser | |
| ENST00000351205.8:c.865T>A | ENSP00000305857.5:p.Cys289Ser | |
| ENST00000380707.8:c.865T>A | ENSP00000370083.4:p.Cys289Ser | |
| ENST00000503079.6:c.769T>A | ENSP00000428128.1:p.Cys257Ser | |
| ENST00000506163.5:c.835-468T>A | ENSP00000424926.1:n.835-468T>A | |
| ENST00000506239.6:c.*59-468T>A | ENSP00000422679.2:n.*59-468T>A | |
| ENST00000510679.1:n.119T>A | ||
| ENST00000514951.5:c.664T>A | ENSP00000423298.1:p.Cys222Ser | |
| NM_000344.3:c.865T>A , LRG_676t1:c.865T>A | NP_000335.1:p.Cys289Ser | |
| NM_001297715.1:c.835-468T>A | NP_001284644.1:n.835-468T>A | |
| NM_022874.2:c.769T>A | NP_075012.1:p.Cys257Ser | |
| XM_011543597.1:c.664T>A | XP_011541899.1:p.Cys222Ser | |
| XM_011543598.1:c.568T>A | XP_011541900.1:p.Cys190Ser | |
| XM_011543598.3:c.568T>A | XP_011541900.1:p.Cys190Ser | |
| XM_017009786.1:c.739-468T>A | XP_016865275.1:n.739-468T>A | |
| NM_000344.4:c.865T>A MANE Select | NP_000335.1:p.Cys289Ser |