Linked Data
ClinVar Variation Id:
7943
dbSNP Id:
rs121909202
gnomAD v2:
8-72156897-G-A
gnomAD v4:
8-71244662-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.71244662G>A , CM000670.2:g.71244662G>A | GRCh38 |
| NC_000008.10:g.72156897G>A , CM000670.1:g.72156897G>A | GRCh37 |
| NC_000008.9:g.72319451G>A | NCBI36 |
| NG_011735.2:g.122571C>T | |
| NG_011735.3:g.308469C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340726.8:c.1081C>T MANE Select | ENSP00000342626.3:p.Arg361Ter | |
| ENST00000388741.7:c.979C>T | ENSP00000373393.2:p.Arg327Ter | |
| ENST00000419131.6:c.1035+25078C>T | ENSP00000410176.1:n.1035+25078C>T | |
| ENST00000465115.6:c.*360C>T | ENSP00000428391.1:n.*360C>T | |
| ENST00000493349.2:c.317C>T | ||
| ENST00000496494.6:n.1544C>T | ||
| ENST00000642391.1:c.*817+25078C>T | ENSP00000496700.1:n.*817+25078C>T | |
| ENST00000643681.1:c.1168C>T | ENSP00000495390.1:p.Arg390Ter | |
| ENST00000644229.1:c.1122+25078C>T | ENSP00000494568.1:n.1122+25078C>T | |
| ENST00000644424.1:n.151C>T | ||
| ENST00000644712.1:c.1119+25078C>T | ENSP00000496188.1:n.1119+25078C>T | |
| ENST00000645793.1:c.1081C>T | ENSP00000496255.1:p.Arg361Ter | |
| ENST00000647540.1:c.1081C>T | ENSP00000494438.1:p.Arg361Ter | |
| ENST00000303824.11:c.1063C>T | ENSP00000303221.7:p.Arg355Ter | |
| ENST00000340726.7:c.1081C>T | ENSP00000342626.3:p.Arg361Ter | |
| ENST00000388740.4:c.982C>T | ENSP00000373392.3:p.Arg328Ter | |
| ENST00000388741.6:c.979C>T | ENSP00000373393.2:p.Arg327Ter | |
| ENST00000388742.8:c.1081C>T | ENSP00000373394.4:p.Arg361Ter | |
| ENST00000388743.6:c.1078C>T | ENSP00000373395.2:p.Arg360Ter | |
| ENST00000419131.5:c.1035+25078C>T | ENSP00000410176.1:n.1035+25078C>T | |
| ENST00000465115.5:c.*360C>T | ENSP00000428391.1:n.*360C>T | |
| ENST00000493349.1:c.-3C>T | ENSP00000428517.1:n.-3C>T | |
| ENST00000496494.5:n.1576C>T | ||
| NM_000503.5:c.1081C>T | NP_000494.2:p.Arg361Ter | |
| NM_001288574.1:c.1063C>T | NP_001275503.1:p.Arg355Ter | |
| NM_001288575.1:c.715C>T | NP_001275504.1:p.Arg239Ter | |
| NM_172058.3:c.1081C>T | NP_742055.1:p.Arg361Ter | |
| NM_172059.3:c.1035+25078C>T | NP_742056.1:n.1035+25078C>T | |
| NM_172060.3:c.982C>T | NP_742057.1:p.Arg328Ter | |
| XM_011517481.1:c.1153C>T | XP_011515783.1:p.Arg385Ter | |
| XM_011517482.1:c.1168C>T | XP_011515784.1:p.Arg390Ter | |
| XM_011517483.1:c.1078C>T | XP_011515785.1:p.Arg360Ter | |
| XM_011517484.1:c.1066C>T | XP_011515786.1:p.Arg356Ter | |
| XM_011517485.1:c.1081C>T | XP_011515787.1:p.Arg361Ter | |
| XM_011517486.1:c.1081C>T | XP_011515788.1:p.Arg361Ter | |
| XM_011517487.1:c.1081C>T | XP_011515789.1:p.Arg361Ter | |
| XM_011517488.1:c.1078C>T | XP_011515790.1:p.Arg360Ter | |
| XM_011517489.1:c.1018C>T | XP_011515791.1:p.Arg340Ter | |
| XM_011517490.1:c.982C>T | XP_011515792.1:p.Arg328Ter | |
| XM_011517491.1:c.982C>T | XP_011515793.1:p.Arg328Ter | |
| XM_011517492.1:c.730C>T | XP_011515794.1:p.Arg244Ter | |
| NM_172059.4:c.1122+25078C>T | NP_742056.2:n.1122+25078C>T | |
| XM_011517483.2:c.1078C>T | XP_011515785.1:p.Arg360Ter | |
| XM_011517484.3:c.1153C>T | XP_011515786.2:p.Arg385Ter | |
| XM_017013201.1:c.1168C>T | XP_016868690.1:p.Arg390Ter | |
| XM_017013202.1:c.1168C>T | XP_016868691.1:p.Arg390Ter | |
| XM_017013203.2:c.1165C>T | XP_016868692.1:p.Arg389Ter | |
| XM_017013204.2:c.1150C>T | XP_016868693.1:p.Arg384Ter | |
| XM_017013205.2:c.1168C>T | XP_016868694.1:p.Arg390Ter | |
| XM_017013206.1:c.1081C>T | XP_016868695.1:p.Arg361Ter | |
| XM_017013207.2:c.1137+25078C>T | XP_016868696.1:n.1137+25078C>T | |
| XM_017013208.2:c.1078C>T | XP_016868697.1:p.Arg360Ter | |
| XM_017013210.2:c.1119+25078C>T | XP_016868699.1:n.1119+25078C>T | |
| XM_017013211.2:c.1018C>T | XP_016868700.1:p.Arg340Ter | |
| XM_017013212.2:c.982C>T | XP_016868701.1:p.Arg328Ter | |
| XM_017013213.1:c.730C>T | XP_016868702.1:p.Arg244Ter | |
| NM_000503.6:c.1081C>T MANE Select | NP_000494.2:p.Arg361Ter | |
| NM_001288574.2:c.1063C>T | NP_001275503.1:p.Arg355Ter | |
| NM_001288575.2:c.715C>T | NP_001275504.1:p.Arg239Ter | |
| NM_001370333.1:c.1168C>T | NP_001357262.1:p.Arg390Ter | |
| NM_001370334.1:c.1081C>T | NP_001357263.1:p.Arg361Ter | |
| NM_001370335.1:c.1081C>T | NP_001357264.1:p.Arg361Ter | |
| NM_001370336.1:c.1119+25078C>T | NP_001357265.1:n.1119+25078C>T | |
| NM_172058.4:c.1081C>T | NP_742055.1:p.Arg361Ter | |
| NM_172059.5:c.1122+25078C>T | NP_742056.2:n.1122+25078C>T |