Linked Data
ClinVar Variation Id:
1038364
ClinVar RCV Id:
RCV001341660
dbSNP Id:
rs924461236
gnomAD v2:
X-99920363-C-G
gnomAD v4:
X-100665366-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100665366C>G , CM000685.2:g.100665366C>G | GRCh38 |
| NC_000023.10:g.99920363C>G , CM000685.1:g.99920363C>G | GRCh37 |
| NC_000023.9:g.99807019C>G | NCBI36 |
| NG_021337.1:g.26201C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.656C>G MANE Select | ENSP00000362095.3:p.Thr219Ser | |
| ENST00000638458.1:c.680C>G | ENSP00000492168.1:p.Thr227Ser | |
| ENST00000638920.1:n.659C>G | ||
| ENST00000640889.1:c.656C>G | ENSP00000492571.1:p.Thr219Ser | |
| ENST00000677630.1:n.590C>G | ||
| ENST00000679590.1:n.689C>G | ||
| ENST00000373004.3:c.656C>G | ENSP00000362095.3:p.Thr219Ser | |
| NM_014467.2:c.656C>G | NP_055282.1:p.Thr219Ser | |
| XM_005262121.2:c.656C>G | XP_005262178.1:p.Thr219Ser | |
| NM_014467.3:c.656C>G MANE Select | NP_055282.1:p.Thr219Ser |