Linked Data
ClinVar Variation Id:
4748
dbSNP Id:
rs121908327
ExAC:
17:76121957 G / A
gnomAD v2:
17-76121957-G-A
gnomAD v3:
17-78125876-G-A
gnomAD v4:
17-78125876-G-A
PubMed:
PMID:12426567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78125876G>A , CM000679.2:g.78125876G>A | GRCh38 |
| NC_000017.10:g.76121957G>A , CM000679.1:g.76121957G>A | GRCh37 |
| NC_000017.9:g.73633552G>A | NCBI36 |
| NG_007879.1:g.11532C>T , LRG_118:g.11532C>T | |
| NG_007881.1:g.99G>A , LRG_119:g.99G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589271.6:c.280C>T | ENSP00000468255.2:p.Arg94Ter | |
| ENST00000592063.6:c.280C>T | ENSP00000466885.2:p.Arg94Ter | |
| ENST00000698546.1:c.*102C>T | ENSP00000513789.1:n.*102C>T | |
| ENST00000698547.1:c.280C>T | ENSP00000513790.1:p.Arg94Ter | |
| ENST00000698548.1:c.280C>T | ENSP00000513791.1:p.Arg94Ter | |
| ENST00000698549.1:c.*102C>T | ENSP00000513792.1:n.*102C>T | |
| ENST00000698550.1:c.280C>T | ENSP00000513793.1:p.Arg94Ter | |
| ENST00000698551.1:c.280C>T | ENSP00000513794.1:p.Arg94Ter | |
| ENST00000590602.6:c.280C>T MANE Select | ENSP00000465261.1:p.Arg94Ter | |
| ENST00000306591.11:c.280C>T | ENSP00000306405.6:p.Arg94Ter | |
| ENST00000322914.7:c.280C>T | ENSP00000313408.2:p.Arg94Ter | |
| ENST00000392467.7:c.280C>T | ENSP00000376260.2:p.Arg94Ter | |
| ENST00000586126.1:c.*102C>T | ENSP00000466159.1:n.*102C>T | |
| ENST00000586271.1:n.14C>T | ||
| ENST00000588087.5:n.473C>T | ||
| ENST00000589271.5:c.280C>T | ENSP00000468255.1:p.Arg94Ter | |
| ENST00000589553.5:c.-305C>T | ENSP00000465359.1:n.-305C>T | |
| ENST00000590602.5:c.280C>T | ENSP00000465261.1:p.Arg94Ter | |
| ENST00000591594.5:n.280C>T | ||
| ENST00000592063.5:c.280C>T | ENSP00000466885.1:p.Arg94Ter | |
| ENST00000592594.5:c.280C>T | ENSP00000467016.1:p.Arg94Ter | |
| ENST00000593044.5:n.860C>T | ||
| NM_001127198.1:c.280C>T | NP_001120670.1:p.Arg94Ter | |
| NM_007267.6:c.280C>T , LRG_118t1:c.280C>T | NP_009198.4:p.Arg94Ter | |
| XM_005256995.1:c.280C>T | XP_005257052.1:p.Arg94Ter | |
| XM_005256996.1:c.280C>T | XP_005257053.1:p.Arg94Ter | |
| XM_005256997.1:c.280C>T | XP_005257054.1:p.Arg94Ter | |
| XM_005256998.1:c.-305C>T | XP_005257055.1:n.-305C>T | |
| XM_011524255.1:c.280C>T | XP_011522557.1:p.Arg94Ter | |
| XM_011524256.1:c.280C>T | XP_011522558.1:p.Arg94Ter | |
| XM_011524258.1:c.280C>T | XP_011522560.1:p.Arg94Ter | |
| XR_243632.1:n.468C>T | ||
| NM_001127198.2:c.280C>T | NP_001120670.1:p.Arg94Ter | |
| NM_001321185.1:c.280C>T | NP_001308114.1:p.Arg94Ter | |
| NM_007267.7:c.280C>T | NP_009198.4:p.Arg94Ter | |
| XM_017024107.1:c.280C>T | XP_016879596.1:p.Arg94Ter | |
| XM_017024108.1:c.280C>T | XP_016879597.1:p.Arg94Ter | |
| XM_024450555.1:c.280C>T | XP_024306323.1:p.Arg94Ter | |
| XM_024450556.1:c.280C>T | XP_024306324.1:p.Arg94Ter | |
| XM_024450557.1:c.-305C>T | XP_024306325.1:n.-305C>T | |
| XR_001752420.1:n.468C>T | ||
| NM_001127198.5:c.280C>T MANE Select | NP_001120670.1:p.Arg94Ter | |
| NM_001374593.1:c.280C>T | NP_001361522.1:p.Arg94Ter | |
| NM_001374594.1:c.280C>T | NP_001361523.1:p.Arg94Ter | |
| NM_001375353.1:c.280C>T | NP_001362282.1:p.Arg94Ter | |
| NM_001375354.1:c.280C>T | NP_001362283.1:p.Arg94Ter | |
| NM_001374596.1:c.280C>T | NP_001361525.1:p.Arg94Ter | |
| NR_168288.1:n.498C>T | ||
| NR_168289.1:n.498C>T | ||
| NR_168290.1:n.498C>T | ||
| NR_168291.1:n.451C>T |