Linked Data
ClinVar Variation Id:
459966
ClinVar RCV Id:
RCV000558221
dbSNP Id:
rs141407224
ExAC:
4:159611572 C / A
gnomAD v2:
4-159611572-C-A
gnomAD v3:
4-158690420-C-A
gnomAD v4:
4-158690420-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158690420C>A , CM000666.2:g.158690420C>A | GRCh38 |
| NC_000004.11:g.159611572C>A , CM000666.1:g.159611572C>A | GRCh37 |
| NC_000004.10:g.159831022C>A | NCBI36 |
| NG_007078.2:g.23079C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507475.6:n.452C>A | ||
| ENST00000681978.1:n.928C>A | ||
| ENST00000682178.1:n.1711C>A | ||
| ENST00000682345.1:c.*379C>A | ENSP00000508122.1:n.*379C>A | |
| ENST00000682452.1:n.1010C>A | ||
| ENST00000682456.1:c.679C>A | ENSP00000508240.1:p.Pro227Thr | |
| ENST00000682601.1:n.870C>A | ||
| ENST00000682734.1:c.-495C>A | ENSP00000507860.1:n.-495C>A | |
| ENST00000682820.1:n.716C>A | ||
| ENST00000682910.1:n.986C>A | ||
| ENST00000683004.1:c.*516C>A | ENSP00000506936.1:n.*516C>A | |
| ENST00000683079.1:c.*59C>A | ENSP00000507296.1:n.*59C>A | |
| ENST00000683081.1:c.*516C>A | ENSP00000507722.1:n.*516C>A | |
| ENST00000683305.1:c.496C>A | ENSP00000508043.1:p.Pro166Thr | |
| ENST00000683448.1:c.184C>A | ENSP00000506931.1:p.Pro62Thr | |
| ENST00000683478.1:c.*59C>A | ENSP00000507793.1:n.*59C>A | |
| ENST00000683483.1:c.679C>A | ENSP00000507719.1:p.Pro227Thr | |
| ENST00000683750.1:n.802C>A | ||
| ENST00000683751.1:c.184C>A | ENSP00000506944.1:p.Pro62Thr | |
| ENST00000684036.1:c.496C>A | ENSP00000507276.1:p.Pro166Thr | |
| ENST00000684129.1:c.-540C>A | ENSP00000507174.1:n.-540C>A | |
| ENST00000684209.1:n.919C>A | ||
| ENST00000684296.1:c.679C>A | ENSP00000507740.1:p.Pro227Thr | |
| ENST00000684505.1:c.628C>A | ENSP00000508237.1:p.Pro210Thr | |
| ENST00000684552.1:c.679C>A | ENSP00000506899.1:p.Pro227Thr | |
| ENST00000684611.1:n.2407C>A | ||
| ENST00000684622.1:c.679C>A | ENSP00000507546.1:p.Pro227Thr | |
| ENST00000684627.1:c.496C>A | ENSP00000507471.1:p.Pro166Thr | |
| ENST00000684641.1:c.679C>A | ENSP00000507642.1:p.Pro227Thr | |
| ENST00000684675.1:c.679C>A | ENSP00000506934.1:p.Pro227Thr | |
| ENST00000684749.1:n.748C>A | ||
| ENST00000511912.6:c.679C>A MANE Select | ENSP00000426638.1:p.Pro227Thr | |
| ENST00000307738.5:c.538C>A | ENSP00000303552.5:p.Pro180Thr | |
| ENST00000506422.1:n.87-13003C>A | ||
| ENST00000507475.5:c.184C>A | ENSP00000422735.1:p.Pro62Thr | |
| ENST00000511912.5:c.679C>A | ENSP00000426638.1:p.Pro227Thr | |
| NM_001281737.1:c.538C>A | NP_001268666.1:p.Pro180Thr | |
| NM_001281738.1:c.496C>A | NP_001268667.1:p.Pro166Thr | |
| NM_004453.3:c.679C>A | NP_004444.2:p.Pro227Thr | |
| XM_024453935.1:c.496C>A | XP_024309703.1:p.Pro166Thr | |
| NM_004453.4:c.679C>A MANE Select | NP_004444.2:p.Pro227Thr | |
| NM_001281737.2:c.538C>A | NP_001268666.1:p.Pro180Thr |