Linked Data
dbSNP Id:
rs755211477
ExAC:
3:180377353 C / T
gnomAD v2:
3-180377353-C-T
gnomAD v4:
3-180659565-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659565C>T , CM000665.2:g.180659565C>T | GRCh38 |
| NC_000003.11:g.180377353C>T , CM000665.1:g.180377353C>T | GRCh37 |
| NC_000003.10:g.181860047C>T | NCBI36 |
| NG_029581.1:g.24931G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.625G>A MANE Select | ENSP00000417960.2:p.Ala209Thr | |
| ENST00000650641.1:n.704G>A | ||
| ENST00000650889.1:n.797G>A | ||
| ENST00000651046.1:c.625G>A | ENSP00000499175.1:p.Ala209Thr | |
| ENST00000651818.1:n.767G>A | ||
| ENST00000652024.1:n.716G>A | ||
| ENST00000652408.1:n.762G>A | ||
| ENST00000442201.6:c.625G>A | ENSP00000405708.2:p.Ala209Thr | |
| ENST00000476379.5:c.625G>A | ENSP00000417960.1:p.Ala209Thr | |
| NM_181426.1:c.625G>A | NP_852091.1:p.Ala209Thr | |
| NM_181426.2:c.625G>A MANE Select | NP_852091.1:p.Ala209Thr |