Linked Data
ClinVar Variation Id:
456004
ClinVar RCV Id:
RCV002231218
dbSNP Id:
rs770350851
ExAC:
17:76118713 C / T
gnomAD v2:
17-76118713-C-T
gnomAD v4:
17-78122632-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78122632C>T , CM000679.2:g.78122632C>T | GRCh38 |
| NC_000017.10:g.76118713C>T , CM000679.1:g.76118713C>T | GRCh37 |
| NC_000017.9:g.73630308C>T | NCBI36 |
| NG_007879.1:g.14776G>A , LRG_118:g.14776G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589271.6:c.1200G>A | ENSP00000468255.2:p.Gln400= | |
| ENST00000592063.6:c.1200G>A | ENSP00000466885.2:p.Gln400= | |
| ENST00000698545.1:n.677G>A | ||
| ENST00000698546.1:c.*1022G>A | ENSP00000513789.1:n.*1022G>A | |
| ENST00000698547.1:c.*518G>A | ENSP00000513790.1:n.*518G>A | |
| ENST00000698548.1:c.1200G>A | ENSP00000513791.1:p.Gln400= | |
| ENST00000698549.1:c.*1022G>A | ENSP00000513792.1:n.*1022G>A | |
| ENST00000698550.1:c.1200G>A | ENSP00000513793.1:p.Gln400= | |
| ENST00000698551.1:c.1200G>A | ENSP00000513794.1:p.Gln400= | |
| ENST00000590602.6:c.1200G>A MANE Select | ENSP00000465261.1:p.Gln400= | |
| ENST00000306591.11:c.1200G>A | ENSP00000306405.6:p.Gln400= | |
| ENST00000322914.7:c.1200G>A | ENSP00000313408.2:p.Gln400= | |
| ENST00000392467.7:c.1200G>A | ENSP00000376260.2:p.Gln400= | |
| ENST00000585849.1:n.480G>A | ||
| ENST00000588087.5:n.1393G>A | ||
| ENST00000589553.5:c.519G>A | ENSP00000465359.1:p.Gln173= | |
| ENST00000590602.5:c.1200G>A | ENSP00000465261.1:p.Gln400= | |
| ENST00000591436.5:c.117G>A | ENSP00000464853.1:p.Gln39= | |
| ENST00000592076.5:n.296G>A | ||
| ENST00000593044.5:n.1780G>A | ||
| NM_001127198.1:c.1200G>A | NP_001120670.1:p.Gln400= | |
| NM_007267.6:c.1200G>A , LRG_118t1:c.1200G>A | NP_009198.4:p.Gln400= | |
| XM_005256995.1:c.1200G>A | XP_005257052.1:p.Gln400= | |
| XM_005256996.1:c.1200G>A | XP_005257053.1:p.Gln400= | |
| XM_005256997.1:c.1200G>A | XP_005257054.1:p.Gln400= | |
| XM_005256998.1:c.519G>A | XP_005257055.1:p.Gln173= | |
| XM_011524255.1:c.1200G>A | XP_011522557.1:p.Gln400= | |
| XM_011524256.1:c.1074G>A | XP_011522558.1:p.Gln358= | |
| XM_011524257.1:c.390G>A | XP_011522559.1:p.Gln130= | |
| XM_011524258.1:c.1200G>A | XP_011522560.1:p.Gln400= | |
| XR_243632.1:n.1388G>A | ||
| NM_001127198.2:c.1200G>A | NP_001120670.1:p.Gln400= | |
| NM_001321185.1:c.1200G>A | NP_001308114.1:p.Gln400= | |
| NM_007267.7:c.1200G>A | NP_009198.4:p.Gln400= | |
| XM_011524257.3:c.390G>A | XP_011522559.1:p.Gln130= | |
| XM_017024107.1:c.1200G>A | XP_016879596.1:p.Gln400= | |
| XM_017024108.1:c.1200G>A | XP_016879597.1:p.Gln400= | |
| XM_024450555.1:c.1200G>A | XP_024306323.1:p.Gln400= | |
| XM_024450556.1:c.1200G>A | XP_024306324.1:p.Gln400= | |
| XM_024450557.1:c.519G>A | XP_024306325.1:p.Gln173= | |
| XR_001752420.1:n.1388G>A | ||
| NM_001127198.5:c.1200G>A MANE Select | NP_001120670.1:p.Gln400= | |
| NM_001374593.1:c.1200G>A | NP_001361522.1:p.Gln400= | |
| NM_001374594.1:c.1200G>A | NP_001361523.1:p.Gln400= | |
| NM_001375353.1:c.1200G>A | NP_001362282.1:p.Gln400= | |
| NM_001375354.1:c.1200G>A | NP_001362283.1:p.Gln400= | |
| NM_001374596.1:c.1200G>A | NP_001361525.1:p.Gln400= | |
| NR_168288.1:n.1418G>A | ||
| NR_168289.1:n.1418G>A | ||
| NR_168290.1:n.1321G>A | ||
| NR_168291.1:n.1371G>A |