Linked Data
ClinVar Variation Id:
163434
dbSNP Id:
rs186249248
ExAC:
8:72129273 A / C
gnomAD v2:
8-72129273-A-C
gnomAD v3:
8-71217038-A-C
gnomAD v4:
8-71217038-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.71217038A>C , CM000670.2:g.71217038A>C | GRCh38 |
| NC_000008.10:g.72129273A>C , CM000670.1:g.72129273A>C | GRCh37 |
| NC_000008.9:g.72291827A>C | NCBI36 |
| NG_011735.2:g.150195T>G | |
| NG_011735.3:g.336093T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340726.8:c.1141-15T>G MANE Select | ENSP00000342626.3:n.1141-15T>G | |
| ENST00000388741.7:c.1039-15T>G | ENSP00000373393.2:n.1039-15T>G | |
| ENST00000419131.6:c.1036-15T>G | ENSP00000410176.1:n.1036-15T>G | |
| ENST00000465115.6:c.*420-15T>G | ENSP00000428391.1:n.*420-15T>G | |
| ENST00000493349.2:c.531-15T>G | ||
| ENST00000496494.6:n.1604-15T>G | ||
| ENST00000642391.1:c.*818-15T>G | ENSP00000496700.1:n.*818-15T>G | |
| ENST00000643681.1:c.1228-15T>G | ENSP00000495390.1:n.1228-15T>G | |
| ENST00000644229.1:c.1123-15T>G | ENSP00000494568.1:n.1123-15T>G | |
| ENST00000644424.1:n.211-15T>G | ||
| ENST00000644712.1:c.1120-15T>G | ENSP00000496188.1:n.1120-15T>G | |
| ENST00000645793.1:c.1141-15T>G | ENSP00000496255.1:n.1141-15T>G | |
| ENST00000647540.1:c.1141-15T>G | ENSP00000494438.1:n.1141-15T>G | |
| ENST00000303824.11:c.1123-15T>G | ENSP00000303221.7:n.1123-15T>G | |
| ENST00000340726.7:c.1141-15T>G | ENSP00000342626.3:n.1141-15T>G | |
| ENST00000388740.4:c.1042-15T>G | ENSP00000373392.3:n.1042-15T>G | |
| ENST00000388741.6:c.1039-15T>G | ENSP00000373393.2:n.1039-15T>G | |
| ENST00000388742.8:c.1141-15T>G | ENSP00000373394.4:n.1141-15T>G | |
| ENST00000388743.6:c.1138-15T>G | ENSP00000373395.2:n.1138-15T>G | |
| ENST00000419131.5:c.1036-15T>G | ENSP00000410176.1:n.1036-15T>G | |
| ENST00000465115.5:c.*420-15T>G | ENSP00000428391.1:n.*420-15T>G | |
| ENST00000493349.1:c.*86-15T>G | ENSP00000428517.1:n.*86-15T>G | |
| ENST00000496494.5:n.1636-15T>G | ||
| NM_000503.5:c.1141-15T>G | NP_000494.2:n.1141-15T>G | |
| NM_001288574.1:c.1123-15T>G | NP_001275503.1:n.1123-15T>G | |
| NM_001288575.1:c.775-15T>G | NP_001275504.1:n.775-15T>G | |
| NM_172058.3:c.1141-15T>G | NP_742055.1:n.1141-15T>G | |
| NM_172059.3:c.1036-15T>G | NP_742056.1:n.1036-15T>G | |
| NM_172060.3:c.1042-15T>G | NP_742057.1:n.1042-15T>G | |
| XM_011517481.1:c.1213-15T>G | XP_011515783.1:n.1213-15T>G | |
| XM_011517482.1:c.1228-15T>G | XP_011515784.1:n.1228-15T>G | |
| XM_011517483.1:c.1138-15T>G | XP_011515785.1:n.1138-15T>G | |
| XM_011517484.1:c.1126-15T>G | XP_011515786.1:n.1126-15T>G | |
| XM_011517485.1:c.1141-15T>G | XP_011515787.1:n.1141-15T>G | |
| XM_011517486.1:c.1141-15T>G | XP_011515788.1:n.1141-15T>G | |
| XM_011517487.1:c.1141-15T>G | XP_011515789.1:n.1141-15T>G | |
| XM_011517488.1:c.1138-15T>G | XP_011515790.1:n.1138-15T>G | |
| XM_011517489.1:c.1078-15T>G | XP_011515791.1:n.1078-15T>G | |
| XM_011517490.1:c.1042-15T>G | XP_011515792.1:n.1042-15T>G | |
| XM_011517491.1:c.1042-15T>G | XP_011515793.1:n.1042-15T>G | |
| XM_011517492.1:c.790-15T>G | XP_011515794.1:n.790-15T>G | |
| NM_172059.4:c.1123-15T>G | NP_742056.2:n.1123-15T>G | |
| XM_011517483.2:c.1138-15T>G | XP_011515785.1:n.1138-15T>G | |
| XM_011517484.3:c.1213-15T>G | XP_011515786.2:n.1213-15T>G | |
| XM_017013201.1:c.1228-15T>G | XP_016868690.1:n.1228-15T>G | |
| XM_017013202.1:c.1228-15T>G | XP_016868691.1:n.1228-15T>G | |
| XM_017013203.2:c.1225-15T>G | XP_016868692.1:n.1225-15T>G | |
| XM_017013204.2:c.1210-15T>G | XP_016868693.1:n.1210-15T>G | |
| XM_017013205.2:c.1228-15T>G | XP_016868694.1:n.1228-15T>G | |
| XM_017013206.1:c.1141-15T>G | XP_016868695.1:n.1141-15T>G | |
| XM_017013207.2:c.1138-15T>G | XP_016868696.1:n.1138-15T>G | |
| XM_017013208.2:c.1138-15T>G | XP_016868697.1:n.1138-15T>G | |
| XM_017013210.2:c.1120-15T>G | XP_016868699.1:n.1120-15T>G | |
| XM_017013211.2:c.1078-15T>G | XP_016868700.1:n.1078-15T>G | |
| XM_017013212.2:c.1042-15T>G | XP_016868701.1:n.1042-15T>G | |
| XM_017013213.1:c.790-15T>G | XP_016868702.1:n.790-15T>G | |
| NM_000503.6:c.1141-15T>G MANE Select | NP_000494.2:n.1141-15T>G | |
| NM_001288574.2:c.1123-15T>G | NP_001275503.1:n.1123-15T>G | |
| NM_001288575.2:c.775-15T>G | NP_001275504.1:n.775-15T>G | |
| NM_001370333.1:c.1228-15T>G | NP_001357262.1:n.1228-15T>G | |
| NM_001370334.1:c.1141-15T>G | NP_001357263.1:n.1141-15T>G | |
| NM_001370335.1:c.1141-15T>G | NP_001357264.1:n.1141-15T>G | |
| NM_001370336.1:c.1120-15T>G | NP_001357265.1:n.1120-15T>G | |
| NM_172058.4:c.1141-15T>G | NP_742055.1:n.1141-15T>G | |
| NM_172059.5:c.1123-15T>G | NP_742056.2:n.1123-15T>G |