Linked Data
ClinVar Variation Id:
526267
dbSNP Id:
rs139654750
ExAC:
17:76120993 G / A
gnomAD v2:
17-76120993-G-A
gnomAD v3:
17-78124912-G-A
gnomAD v4:
17-78124912-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78124912G>A , CM000679.2:g.78124912G>A | GRCh38 |
| NC_000017.10:g.76120993G>A , CM000679.1:g.76120993G>A | GRCh37 |
| NC_000017.9:g.73632588G>A | NCBI36 |
| NG_007879.1:g.12496C>T , LRG_118:g.12496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589271.6:c.610C>T | ENSP00000468255.2:p.Arg204Trp | |
| ENST00000592063.6:c.610C>T | ENSP00000466885.2:p.Arg204Trp | |
| ENST00000698546.1:c.*432C>T | ENSP00000513789.1:n.*432C>T | |
| ENST00000698547.1:c.537-131C>T | ENSP00000513790.1:n.537-131C>T | |
| ENST00000698548.1:c.610C>T | ENSP00000513791.1:p.Arg204Trp | |
| ENST00000698549.1:c.*432C>T | ENSP00000513792.1:n.*432C>T | |
| ENST00000698550.1:c.610C>T | ENSP00000513793.1:p.Arg204Trp | |
| ENST00000698551.1:c.610C>T | ENSP00000513794.1:p.Arg204Trp | |
| ENST00000590602.6:c.610C>T MANE Select | ENSP00000465261.1:p.Arg204Trp | |
| ENST00000306591.11:c.610C>T | ENSP00000306405.6:p.Arg204Trp | |
| ENST00000322914.7:c.610C>T | ENSP00000313408.2:p.Arg204Trp | |
| ENST00000392467.7:c.610C>T | ENSP00000376260.2:p.Arg204Trp | |
| ENST00000586271.1:n.344C>T | ||
| ENST00000588087.5:n.803C>T | ||
| ENST00000589271.5:c.610C>T | ENSP00000468255.1:p.Arg204Trp | |
| ENST00000589553.5:c.-48-131C>T | ENSP00000465359.1:n.-48-131C>T | |
| ENST00000590602.5:c.610C>T | ENSP00000465261.1:p.Arg204Trp | |
| ENST00000593044.5:n.1190C>T | ||
| NM_001127198.1:c.610C>T | NP_001120670.1:p.Arg204Trp | |
| NM_007267.6:c.610C>T , LRG_118t1:c.610C>T | NP_009198.4:p.Arg204Trp | |
| XM_005256995.1:c.610C>T | XP_005257052.1:p.Arg204Trp | |
| XM_005256996.1:c.610C>T | XP_005257053.1:p.Arg204Trp | |
| XM_005256997.1:c.610C>T | XP_005257054.1:p.Arg204Trp | |
| XM_005256998.1:c.-48-131C>T | XP_005257055.1:n.-48-131C>T | |
| XM_011524255.1:c.610C>T | XP_011522557.1:p.Arg204Trp | |
| XM_011524256.1:c.610C>T | XP_011522558.1:p.Arg204Trp | |
| XM_011524257.1:c.-52+246C>T | XP_011522559.1:n.-52+246C>T | |
| XM_011524258.1:c.610C>T | XP_011522560.1:p.Arg204Trp | |
| XR_243632.1:n.798C>T | ||
| NM_001127198.2:c.610C>T | NP_001120670.1:p.Arg204Trp | |
| NM_001321185.1:c.610C>T | NP_001308114.1:p.Arg204Trp | |
| NM_007267.7:c.610C>T | NP_009198.4:p.Arg204Trp | |
| XM_011524257.3:c.-52+246C>T | XP_011522559.1:n.-52+246C>T | |
| XM_017024107.1:c.610C>T | XP_016879596.1:p.Arg204Trp | |
| XM_017024108.1:c.610C>T | XP_016879597.1:p.Arg204Trp | |
| XM_024450555.1:c.610C>T | XP_024306323.1:p.Arg204Trp | |
| XM_024450556.1:c.610C>T | XP_024306324.1:p.Arg204Trp | |
| XM_024450557.1:c.-48-131C>T | XP_024306325.1:n.-48-131C>T | |
| XR_001752420.1:n.798C>T | ||
| NM_001127198.5:c.610C>T MANE Select | NP_001120670.1:p.Arg204Trp | |
| NM_001374593.1:c.610C>T | NP_001361522.1:p.Arg204Trp | |
| NM_001374594.1:c.610C>T | NP_001361523.1:p.Arg204Trp | |
| NM_001375353.1:c.610C>T | NP_001362282.1:p.Arg204Trp | |
| NM_001375354.1:c.610C>T | NP_001362283.1:p.Arg204Trp | |
| NM_001374596.1:c.610C>T | NP_001361525.1:p.Arg204Trp | |
| NR_168288.1:n.828C>T | ||
| NR_168289.1:n.828C>T | ||
| NR_168290.1:n.755-131C>T | ||
| NR_168291.1:n.781C>T |