Linked Data
ClinVar Variation Id:
214812
ClinVar RCV Id:
RCV000199422
dbSNP Id:
rs761800077
ExAC:
5:52954419 C / G
gnomAD v2:
5-52954419-C-G
gnomAD v4:
5-53658589-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53658589C>G , CM000667.2:g.53658589C>G | GRCh38 |
| NC_000005.9:g.52954419C>G , CM000667.1:g.52954419C>G | GRCh37 |
| NC_000005.8:g.52990176C>G | NCBI36 |
| NG_008200.1:g.102955C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.389C>G MANE Select | ENSP00000296684.5:p.Thr130Ser | |
| ENST00000296684.9:c.389C>G | ENSP00000296684.5:p.Thr130Ser | |
| ENST00000502423.5:c.*256C>G | ENSP00000422177.1:n.*256C>G | |
| ENST00000506765.1:c.338+12184C>G | ENSP00000424570.1:n.338+12184C>G | |
| ENST00000506974.5:c.*165C>G | ENSP00000425967.1:n.*165C>G | |
| ENST00000507026.5:c.*363C>G | ENSP00000424993.1:n.*363C>G | |
| ENST00000509443.1:n.250C>G | ||
| NM_002495.2:c.389C>G | NP_002486.1:p.Thr130Ser | |
| XM_005248525.3:c.350+12184C>G | XP_005248582.1:n.350+12184C>G | |
| XM_011543415.1:c.215C>G | XP_011541717.1:p.Thr72Ser | |
| NM_001318051.1:c.350+12184C>G | NP_001304980.1:n.350+12184C>G | |
| NM_002495.3:c.389C>G | NP_002486.1:p.Thr130Ser | |
| NR_134473.1:n.591C>G | ||
| NR_134474.1:n.508C>G | ||
| NR_134475.1:n.543C>G | ||
| NM_002495.4:c.389C>G MANE Select | NP_002486.1:p.Thr130Ser | |
| NM_001318051.2:c.350+12184C>G | NP_001304980.1:n.350+12184C>G | |
| NR_134473.2:n.585C>G | ||
| NR_134474.2:n.502C>G | ||
| NR_134475.2:n.537C>G |