Linked Data
ClinVar Variation Id:
2753874
ClinVar RCV Id:
RCV003593761
dbSNP Id:
rs760516850
ExAC:
17:76118667 G / A
gnomAD v2:
17-76118667-G-A
gnomAD v4:
17-78122586-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78122586G>A , CM000679.2:g.78122586G>A | GRCh38 |
| NC_000017.10:g.76118667G>A , CM000679.1:g.76118667G>A | GRCh37 |
| NC_000017.9:g.73630262G>A | NCBI36 |
| NG_007879.1:g.14822C>T , LRG_118:g.14822C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589271.6:c.1227+19C>T | ENSP00000468255.2:n.1227+19C>T | |
| ENST00000592063.6:c.1227+19C>T | ENSP00000466885.2:n.1227+19C>T | |
| ENST00000698545.1:n.704+19C>T | ||
| ENST00000698546.1:c.*1049+19C>T | ENSP00000513789.1:n.*1049+19C>T | |
| ENST00000698547.1:c.*545+19C>T | ENSP00000513790.1:n.*545+19C>T | |
| ENST00000698548.1:c.1227+19C>T | ENSP00000513791.1:n.1227+19C>T | |
| ENST00000698549.1:c.*1049+19C>T | ENSP00000513792.1:n.*1049+19C>T | |
| ENST00000698550.1:c.1227+19C>T | ENSP00000513793.1:n.1227+19C>T | |
| ENST00000698551.1:c.1227+19C>T | ENSP00000513794.1:n.1227+19C>T | |
| ENST00000590602.6:c.1227+19C>T MANE Select | ENSP00000465261.1:n.1227+19C>T | |
| ENST00000306591.11:c.1227+19C>T | ENSP00000306405.6:n.1227+19C>T | |
| ENST00000322914.7:c.1227+19C>T | ENSP00000313408.2:n.1227+19C>T | |
| ENST00000392467.7:c.1227+19C>T | ENSP00000376260.2:n.1227+19C>T | |
| ENST00000585849.1:n.526C>T | ||
| ENST00000588087.5:n.1420+19C>T | ||
| ENST00000589553.5:c.546+19C>T | ENSP00000465359.1:n.546+19C>T | |
| ENST00000590602.5:c.1227+19C>T | ENSP00000465261.1:n.1227+19C>T | |
| ENST00000591436.5:c.144+19C>T | ENSP00000464853.1:n.144+19C>T | |
| ENST00000592076.5:n.323+19C>T | ||
| ENST00000593044.5:n.1807+19C>T | ||
| NM_001127198.1:c.1227+19C>T | NP_001120670.1:n.1227+19C>T | |
| NM_007267.6:c.1227+19C>T , LRG_118t1:c.1227+19C>T | NP_009198.4:n.1227+19C>T | |
| XM_005256995.1:c.1227+19C>T | XP_005257052.1:n.1227+19C>T | |
| XM_005256996.1:c.1227+19C>T | XP_005257053.1:n.1227+19C>T | |
| XM_005256997.1:c.1227+19C>T | XP_005257054.1:n.1227+19C>T | |
| XM_005256998.1:c.546+19C>T | XP_005257055.1:n.546+19C>T | |
| XM_011524255.1:c.1227+19C>T | XP_011522557.1:n.1227+19C>T | |
| XM_011524256.1:c.1101+19C>T | XP_011522558.1:n.1101+19C>T | |
| XM_011524257.1:c.417+19C>T | XP_011522559.1:n.417+19C>T | |
| XM_011524258.1:c.1227+19C>T | XP_011522560.1:n.1227+19C>T | |
| XR_243632.1:n.1415+19C>T | ||
| NM_001127198.2:c.1227+19C>T | NP_001120670.1:n.1227+19C>T | |
| NM_001321185.1:c.1227+19C>T | NP_001308114.1:n.1227+19C>T | |
| NM_007267.7:c.1227+19C>T | NP_009198.4:n.1227+19C>T | |
| XM_011524257.3:c.417+19C>T | XP_011522559.1:n.417+19C>T | |
| XM_017024107.1:c.1227+19C>T | XP_016879596.1:n.1227+19C>T | |
| XM_017024108.1:c.1227+19C>T | XP_016879597.1:n.1227+19C>T | |
| XM_024450555.1:c.1227+19C>T | XP_024306323.1:n.1227+19C>T | |
| XM_024450556.1:c.1227+19C>T | XP_024306324.1:n.1227+19C>T | |
| XM_024450557.1:c.546+19C>T | XP_024306325.1:n.546+19C>T | |
| XR_001752420.1:n.1415+19C>T | ||
| NM_001127198.5:c.1227+19C>T MANE Select | NP_001120670.1:n.1227+19C>T | |
| NM_001374593.1:c.1227+19C>T | NP_001361522.1:n.1227+19C>T | |
| NM_001374594.1:c.1227+19C>T | NP_001361523.1:n.1227+19C>T | |
| NM_001375353.1:c.1227+19C>T | NP_001362282.1:n.1227+19C>T | |
| NM_001375354.1:c.1227+19C>T | NP_001362283.1:n.1227+19C>T | |
| NM_001374596.1:c.1227+19C>T | NP_001361525.1:n.1227+19C>T | |
| NR_168288.1:n.1445+19C>T | ||
| NR_168289.1:n.1445+19C>T | ||
| NR_168290.1:n.1348+19C>T | ||
| NR_168291.1:n.1398+19C>T |