Linked Data
ClinVar Variation Id:
130745
dbSNP Id:
rs1045794
ExAC:
17:1640709 C / T
gnomAD v2:
17-1640709-C-T
gnomAD v3:
17-1737415-C-T
gnomAD v4:
17-1737415-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1737415C>T , CM000679.2:g.1737415C>T | GRCh38 |
| NC_000017.10:g.1640709C>T , CM000679.1:g.1640709C>T | GRCh37 |
| NC_000017.9:g.1587459C>T | NCBI36 |
| NG_032811.1:g.25893C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409644.6:c.5556C>T MANE Select | ENSP00000386609.1:p.Thr1852= | |
| ENST00000309182.9:c.2403C>T | ENSP00000312074.5:p.Thr801= | |
| ENST00000409644.5:c.5556C>T | ENSP00000386609.1:p.Thr1852= | |
| ENST00000419248.5:c.1875C>T | ENSP00000407845.1:p.Thr625= | |
| ENST00000437219.6:c.1947C>T | ENSP00000391074.2:p.Thr649= | |
| ENST00000446363.5:c.1473C>T | ENSP00000401560.1:p.Thr491= | |
| ENST00000464528.5:n.3263C>T | ||
| NM_001163673.1:c.1947C>T | NP_001157145.1:p.Thr649= | |
| NM_001163809.1:c.5556C>T | NP_001157281.1:p.Thr1852= | |
| NM_001163811.1:c.1875C>T | NP_001157283.1:p.Thr625= | |
| NM_152348.3:c.2403C>T | NP_689561.2:p.Thr801= | |
| XM_011523651.1:c.2403C>T | XP_011521953.1:p.Thr801= | |
| XM_011523651.2:c.2403C>T | XP_011521953.1:p.Thr801= | |
| XM_017024184.1:c.*2C>T | XP_016879673.1:n.*2C>T | |
| XR_001752427.1:n.5722C>T | ||
| XR_933973.2:n.5653C>T | ||
| NM_001163809.2:c.5556C>T MANE Select | NP_001157281.1:p.Thr1852= | |
| NM_001163811.2:c.1875C>T | NP_001157283.1:p.Thr625= | |
| NM_152348.4:c.2403C>T | NP_689561.2:p.Thr801= | |
| NM_001163673.2:c.1947C>T | NP_001157145.1:p.Thr649= |