Linked Data
ClinVar Variation Id:
497478
dbSNP Id:
rs768513428
ExAC:
11:76915284 G / A
gnomAD v2:
11-76915284-G-A
gnomAD v3:
11-77204239-G-A
gnomAD v4:
11-77204239-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77204239G>A , CM000673.2:g.77204239G>A | GRCh38 |
| NC_000011.9:g.76915284G>A , CM000673.1:g.76915284G>A | GRCh37 |
| NC_000011.8:g.76592932G>A | NCBI36 |
| NG_009086.1:g.80975G>A | |
| NG_009086.2:g.80994G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5480+10G>A MANE Select | ENSP00000386331.3:n.5480+10G>A | |
| ENST00000670577.1:c.3307+10G>A | ||
| ENST00000409619.6:c.5333+10G>A | ENSP00000386635.2:n.5333+10G>A | |
| ENST00000409709.7:c.5480+10G>A | ENSP00000386331.3:n.5480+10G>A | |
| ENST00000458169.2:c.2906+10G>A | ENSP00000417017.2:n.2906+10G>A | |
| ENST00000458637.6:c.5366+10G>A | ENSP00000392185.2:n.5366+10G>A | |
| ENST00000481328.7:n.3016+10G>A | ||
| ENST00000605744.1:n.186+10G>A | ||
| NM_000260.3:c.5480+10G>A | NP_000251.3:n.5480+10G>A | |
| NM_001127180.1:c.5366+10G>A | NP_001120652.1:n.5366+10G>A | |
| XM_005274012.2:c.5363+10G>A | XP_005274069.1:n.5363+10G>A | |
| XM_006718558.2:c.5471+10G>A | XP_006718621.1:n.5471+10G>A | |
| XM_006718559.2:c.5366+10G>A | XP_006718622.1:n.5366+10G>A | |
| XM_006718560.2:c.5363+10G>A | XP_006718623.1:n.5363+10G>A | |
| XM_006718561.2:c.5366+10G>A | XP_006718624.1:n.5366+10G>A | |
| XM_011545044.1:c.5480+10G>A | XP_011543346.1:n.5480+10G>A | |
| XM_011545045.1:c.5474+10G>A | XP_011543347.1:n.5474+10G>A | |
| XM_011545046.1:c.5447+10G>A | XP_011543348.1:n.5447+10G>A | |
| XM_011545047.1:c.5384+10G>A | XP_011543349.1:n.5384+10G>A | |
| XM_011545048.1:c.5255+10G>A | XP_011543350.1:n.5255+10G>A | |
| XM_011545049.1:c.5243+10G>A | XP_011543351.1:n.5243+10G>A | |
| XM_011545050.1:c.5216+10G>A | XP_011543352.1:n.5216+10G>A | |
| XM_011545051.1:c.5480+10G>A | XP_011543353.1:n.5480+10G>A | |
| XM_011545052.1:c.5480+10G>A | XP_011543354.1:n.5480+10G>A | |
| XR_949938.1:n.5800+10G>A | ||
| XR_949941.1:n.5800+10G>A | ||
| XR_949942.1:n.5788+10G>A | ||
| XM_011545044.2:c.5480+10G>A | XP_011543346.1:n.5480+10G>A | |
| XM_011545046.2:c.5570+10G>A | XP_011543348.2:n.5570+10G>A | |
| XM_011545050.2:c.5216+10G>A | XP_011543352.1:n.5216+10G>A | |
| XM_017017778.1:c.5564+10G>A | XP_016873267.1:n.5564+10G>A | |
| XM_017017779.1:c.5561+10G>A | XP_016873268.1:n.5561+10G>A | |
| XM_017017780.1:c.5570+10G>A | XP_016873269.1:n.5570+10G>A | |
| XM_017017781.1:c.5474+10G>A | XP_016873270.1:n.5474+10G>A | |
| XM_017017782.1:c.5456+10G>A | XP_016873271.1:n.5456+10G>A | |
| XM_017017783.1:c.5453+10G>A | XP_016873272.1:n.5453+10G>A | |
| XM_017017784.1:c.5453+10G>A | XP_016873273.1:n.5453+10G>A | |
| XM_017017785.1:c.5333+10G>A | XP_016873274.1:n.5333+10G>A | |
| XM_017017786.1:c.5570+10G>A | XP_016873275.1:n.5570+10G>A | |
| XM_017017788.1:c.5456+10G>A | XP_016873277.1:n.5456+10G>A | |
| XR_001747885.1:n.5585+10G>A | ||
| XR_001747886.1:n.5585+10G>A | ||
| XR_001747887.1:n.5571+10G>A | ||
| XR_001747888.1:n.5571+10G>A | ||
| NM_000260.4:c.5480+10G>A MANE Select | NP_000251.3:n.5480+10G>A | |
| NM_001127180.2:c.5366+10G>A | NP_001120652.1:n.5366+10G>A | |
| NM_001369365.1:c.5333+10G>A | NP_001356294.1:n.5333+10G>A |