Linked Data
ClinVar Variation Id:
1914576
ClinVar RCV Id:
RCV002597661
dbSNP Id:
rs762781196
ExAC:
8:72129081 A / G
gnomAD v2:
8-72129081-A-G
gnomAD v3:
8-71216846-A-G
gnomAD v4:
8-71216846-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.71216846A>G , CM000670.2:g.71216846A>G | GRCh38 |
| NC_000008.10:g.72129081A>G , CM000670.1:g.72129081A>G | GRCh37 |
| NC_000008.9:g.72291635A>G | NCBI36 |
| NG_011735.2:g.150387T>C | |
| NG_011735.3:g.336285T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340726.8:c.1206T>C MANE Select | ENSP00000342626.3:p.Tyr402= | |
| ENST00000388741.7:c.1104T>C | ENSP00000373393.2:p.Tyr368= | |
| ENST00000419131.6:c.1101T>C | ENSP00000410176.1:p.Tyr367= | |
| ENST00000465115.6:c.*485T>C | ENSP00000428391.1:n.*485T>C | |
| ENST00000493349.2:c.596T>C | ||
| ENST00000496494.6:n.1669T>C | ||
| ENST00000642391.1:c.*883T>C | ENSP00000496700.1:n.*883T>C | |
| ENST00000643681.1:c.1293T>C | ENSP00000495390.1:p.Tyr431= | |
| ENST00000644229.1:c.1188T>C | ENSP00000494568.1:p.Tyr396= | |
| ENST00000644424.1:n.276T>C | ||
| ENST00000644712.1:c.1185T>C | ENSP00000496188.1:p.Tyr395= | |
| ENST00000645793.1:c.1206T>C | ENSP00000496255.1:p.Tyr402= | |
| ENST00000647540.1:c.1206T>C | ENSP00000494438.1:p.Tyr402= | |
| ENST00000303824.11:c.1188T>C | ENSP00000303221.7:p.Tyr396= | |
| ENST00000340726.7:c.1206T>C | ENSP00000342626.3:p.Tyr402= | |
| ENST00000388740.4:c.1107T>C | ENSP00000373392.3:p.Tyr369= | |
| ENST00000388741.6:c.1104T>C | ENSP00000373393.2:p.Tyr368= | |
| ENST00000388742.8:c.1206T>C | ENSP00000373394.4:p.Tyr402= | |
| ENST00000388743.6:c.1203T>C | ENSP00000373395.2:p.Tyr401= | |
| ENST00000419131.5:c.1101T>C | ENSP00000410176.1:p.Tyr367= | |
| ENST00000465115.5:c.*485T>C | ENSP00000428391.1:n.*485T>C | |
| ENST00000493349.1:c.*151T>C | ENSP00000428517.1:n.*151T>C | |
| ENST00000496494.5:n.1701T>C | ||
| NM_000503.5:c.1206T>C | NP_000494.2:p.Tyr402= | |
| NM_001288574.1:c.1188T>C | NP_001275503.1:p.Tyr396= | |
| NM_001288575.1:c.840T>C | NP_001275504.1:p.Tyr280= | |
| NM_172058.3:c.1206T>C | NP_742055.1:p.Tyr402= | |
| NM_172059.3:c.1101T>C | NP_742056.1:p.Tyr367= | |
| NM_172060.3:c.1107T>C | NP_742057.1:p.Tyr369= | |
| XM_011517481.1:c.1278T>C | XP_011515783.1:p.Tyr426= | |
| XM_011517482.1:c.1293T>C | XP_011515784.1:p.Tyr431= | |
| XM_011517483.1:c.1203T>C | XP_011515785.1:p.Tyr401= | |
| XM_011517484.1:c.1191T>C | XP_011515786.1:p.Tyr397= | |
| XM_011517485.1:c.1206T>C | XP_011515787.1:p.Tyr402= | |
| XM_011517486.1:c.1206T>C | XP_011515788.1:p.Tyr402= | |
| XM_011517487.1:c.1206T>C | XP_011515789.1:p.Tyr402= | |
| XM_011517488.1:c.1203T>C | XP_011515790.1:p.Tyr401= | |
| XM_011517489.1:c.1143T>C | XP_011515791.1:p.Tyr381= | |
| XM_011517490.1:c.1107T>C | XP_011515792.1:p.Tyr369= | |
| XM_011517491.1:c.1107T>C | XP_011515793.1:p.Tyr369= | |
| XM_011517492.1:c.855T>C | XP_011515794.1:p.Tyr285= | |
| NM_172059.4:c.1188T>C | NP_742056.2:p.Tyr396= | |
| XM_011517483.2:c.1203T>C | XP_011515785.1:p.Tyr401= | |
| XM_011517484.3:c.1278T>C | XP_011515786.2:p.Tyr426= | |
| XM_017013201.1:c.1293T>C | XP_016868690.1:p.Tyr431= | |
| XM_017013202.1:c.1293T>C | XP_016868691.1:p.Tyr431= | |
| XM_017013203.2:c.1290T>C | XP_016868692.1:p.Tyr430= | |
| XM_017013204.2:c.1275T>C | XP_016868693.1:p.Tyr425= | |
| XM_017013205.2:c.1293T>C | XP_016868694.1:p.Tyr431= | |
| XM_017013206.1:c.1206T>C | XP_016868695.1:p.Tyr402= | |
| XM_017013207.2:c.1203T>C | XP_016868696.1:p.Tyr401= | |
| XM_017013208.2:c.1203T>C | XP_016868697.1:p.Tyr401= | |
| XM_017013210.2:c.1185T>C | XP_016868699.1:p.Tyr395= | |
| XM_017013211.2:c.1143T>C | XP_016868700.1:p.Tyr381= | |
| XM_017013212.2:c.1107T>C | XP_016868701.1:p.Tyr369= | |
| XM_017013213.1:c.855T>C | XP_016868702.1:p.Tyr285= | |
| NM_000503.6:c.1206T>C MANE Select | NP_000494.2:p.Tyr402= | |
| NM_001288574.2:c.1188T>C | NP_001275503.1:p.Tyr396= | |
| NM_001288575.2:c.840T>C | NP_001275504.1:p.Tyr280= | |
| NM_001370333.1:c.1293T>C | NP_001357262.1:p.Tyr431= | |
| NM_001370334.1:c.1206T>C | NP_001357263.1:p.Tyr402= | |
| NM_001370335.1:c.1206T>C | NP_001357264.1:p.Tyr402= | |
| NM_001370336.1:c.1185T>C | NP_001357265.1:p.Tyr395= | |
| NM_172058.4:c.1206T>C | NP_742055.1:p.Tyr402= | |
| NM_172059.5:c.1188T>C | NP_742056.2:p.Tyr396= |