Linked Data
ClinVar Variation Id:
227367
dbSNP Id:
rs112593082
ExAC:
8:72127947 A / T
gnomAD v2:
8-72127947-A-T
gnomAD v3:
8-71215712-A-T
gnomAD v4:
8-71215712-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.71215712A>T , CM000670.2:g.71215712A>T | GRCh38 |
| NC_000008.10:g.72127947A>T , CM000670.1:g.72127947A>T | GRCh37 |
| NC_000008.9:g.72290501A>T | NCBI36 |
| NG_011735.2:g.151521T>A | |
| NG_011735.3:g.337419T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340726.8:c.1377T>A MANE Select | ENSP00000342626.3:p.Ala459= | |
| ENST00000388741.7:c.1275T>A | ENSP00000373393.2:p.Ala425= | |
| ENST00000419131.6:c.1272T>A | ENSP00000410176.1:p.Ala424= | |
| ENST00000465115.6:c.*656T>A | ENSP00000428391.1:n.*656T>A | |
| ENST00000493349.2:c.767T>A | ||
| ENST00000496494.6:n.1840T>A | ||
| ENST00000642391.1:c.*1054T>A | ENSP00000496700.1:n.*1054T>A | |
| ENST00000643681.1:c.1464T>A | ENSP00000495390.1:p.Ala488= | |
| ENST00000644229.1:c.1359T>A | ENSP00000494568.1:p.Ala453= | |
| ENST00000644424.1:n.447T>A | ||
| ENST00000644712.1:c.1356T>A | ENSP00000496188.1:p.Ala452= | |
| ENST00000645793.1:c.1377T>A | ENSP00000496255.1:p.Ala459= | |
| ENST00000647540.1:c.1377T>A | ENSP00000494438.1:p.Ala459= | |
| ENST00000303824.11:c.1359T>A | ENSP00000303221.7:p.Ala453= | |
| ENST00000340726.7:c.1377T>A | ENSP00000342626.3:p.Ala459= | |
| ENST00000388740.4:c.1278T>A | ENSP00000373392.3:p.Ala426= | |
| ENST00000388741.6:c.1275T>A | ENSP00000373393.2:p.Ala425= | |
| ENST00000388742.8:c.1377T>A | ENSP00000373394.4:p.Ala459= | |
| ENST00000388743.6:c.1374T>A | ENSP00000373395.2:p.Ala458= | |
| ENST00000419131.5:c.1272T>A | ENSP00000410176.1:p.Ala424= | |
| ENST00000465115.5:c.*656T>A | ENSP00000428391.1:n.*656T>A | |
| ENST00000493349.1:c.*322T>A | ENSP00000428517.1:n.*322T>A | |
| ENST00000496494.5:n.1872T>A | ||
| NM_000503.5:c.1377T>A | NP_000494.2:p.Ala459= | |
| NM_001288574.1:c.1359T>A | NP_001275503.1:p.Ala453= | |
| NM_001288575.1:c.1011T>A | NP_001275504.1:p.Ala337= | |
| NM_172058.3:c.1377T>A | NP_742055.1:p.Ala459= | |
| NM_172059.3:c.1272T>A | NP_742056.1:p.Ala424= | |
| NM_172060.3:c.1278T>A | NP_742057.1:p.Ala426= | |
| XM_011517481.1:c.1449T>A | XP_011515783.1:p.Ala483= | |
| XM_011517482.1:c.1464T>A | XP_011515784.1:p.Ala488= | |
| XM_011517483.1:c.1374T>A | XP_011515785.1:p.Ala458= | |
| XM_011517484.1:c.1362T>A | XP_011515786.1:p.Ala454= | |
| XM_011517485.1:c.1377T>A | XP_011515787.1:p.Ala459= | |
| XM_011517486.1:c.1377T>A | XP_011515788.1:p.Ala459= | |
| XM_011517487.1:c.1377T>A | XP_011515789.1:p.Ala459= | |
| XM_011517488.1:c.1374T>A | XP_011515790.1:p.Ala458= | |
| XM_011517489.1:c.1314T>A | XP_011515791.1:p.Ala438= | |
| XM_011517490.1:c.1278T>A | XP_011515792.1:p.Ala426= | |
| XM_011517491.1:c.1278T>A | XP_011515793.1:p.Ala426= | |
| XM_011517492.1:c.1026T>A | XP_011515794.1:p.Ala342= | |
| NM_172059.4:c.1359T>A | NP_742056.2:p.Ala453= | |
| XM_011517483.2:c.1374T>A | XP_011515785.1:p.Ala458= | |
| XM_011517484.3:c.1449T>A | XP_011515786.2:p.Ala483= | |
| XM_017013201.1:c.1464T>A | XP_016868690.1:p.Ala488= | |
| XM_017013202.1:c.1464T>A | XP_016868691.1:p.Ala488= | |
| XM_017013203.2:c.1461T>A | XP_016868692.1:p.Ala487= | |
| XM_017013204.2:c.1446T>A | XP_016868693.1:p.Ala482= | |
| XM_017013205.2:c.1464T>A | XP_016868694.1:p.Ala488= | |
| XM_017013206.1:c.1377T>A | XP_016868695.1:p.Ala459= | |
| XM_017013207.2:c.1374T>A | XP_016868696.1:p.Ala458= | |
| XM_017013208.2:c.1374T>A | XP_016868697.1:p.Ala458= | |
| XM_017013210.2:c.1356T>A | XP_016868699.1:p.Ala452= | |
| XM_017013211.2:c.1314T>A | XP_016868700.1:p.Ala438= | |
| XM_017013212.2:c.1278T>A | XP_016868701.1:p.Ala426= | |
| XM_017013213.1:c.1026T>A | XP_016868702.1:p.Ala342= | |
| NM_000503.6:c.1377T>A MANE Select | NP_000494.2:p.Ala459= | |
| NM_001288574.2:c.1359T>A | NP_001275503.1:p.Ala453= | |
| NM_001288575.2:c.1011T>A | NP_001275504.1:p.Ala337= | |
| NM_001370333.1:c.1464T>A | NP_001357262.1:p.Ala488= | |
| NM_001370334.1:c.1377T>A | NP_001357263.1:p.Ala459= | |
| NM_001370335.1:c.1377T>A | NP_001357264.1:p.Ala459= | |
| NM_001370336.1:c.1356T>A | NP_001357265.1:p.Ala452= | |
| NM_172058.4:c.1377T>A | NP_742055.1:p.Ala459= | |
| NM_172059.5:c.1359T>A | NP_742056.2:p.Ala453= |