Linked Data
dbSNP Id:
rs1392799354
gnomAD v2:
8-72129056-C-G
gnomAD v3:
8-71216821-C-G
gnomAD v4:
8-71216821-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.71216821C>G , CM000670.2:g.71216821C>G | GRCh38 |
| NC_000008.10:g.72129056C>G , CM000670.1:g.72129056C>G | GRCh37 |
| NC_000008.9:g.72291610C>G | NCBI36 |
| NG_011735.2:g.150412G>C | |
| NG_011735.3:g.336310G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340726.8:c.1231G>C MANE Select | ENSP00000342626.3:p.Ala411Pro | |
| ENST00000388741.7:c.1129G>C | ENSP00000373393.2:p.Ala377Pro | |
| ENST00000419131.6:c.1126G>C | ENSP00000410176.1:p.Ala376Pro | |
| ENST00000465115.6:c.*510G>C | ENSP00000428391.1:n.*510G>C | |
| ENST00000493349.2:c.621G>C | ||
| ENST00000496494.6:n.1694G>C | ||
| ENST00000642391.1:c.*908G>C | ENSP00000496700.1:n.*908G>C | |
| ENST00000643681.1:c.1318G>C | ENSP00000495390.1:p.Ala440Pro | |
| ENST00000644229.1:c.1213G>C | ENSP00000494568.1:p.Ala405Pro | |
| ENST00000644424.1:n.301G>C | ||
| ENST00000644712.1:c.1210G>C | ENSP00000496188.1:p.Ala404Pro | |
| ENST00000645793.1:c.1231G>C | ENSP00000496255.1:p.Ala411Pro | |
| ENST00000647540.1:c.1231G>C | ENSP00000494438.1:p.Ala411Pro | |
| ENST00000303824.11:c.1213G>C | ENSP00000303221.7:p.Ala405Pro | |
| ENST00000340726.7:c.1231G>C | ENSP00000342626.3:p.Ala411Pro | |
| ENST00000388740.4:c.1132G>C | ENSP00000373392.3:p.Ala378Pro | |
| ENST00000388741.6:c.1129G>C | ENSP00000373393.2:p.Ala377Pro | |
| ENST00000388742.8:c.1231G>C | ENSP00000373394.4:p.Ala411Pro | |
| ENST00000388743.6:c.1228G>C | ENSP00000373395.2:p.Ala410Pro | |
| ENST00000419131.5:c.1126G>C | ENSP00000410176.1:p.Ala376Pro | |
| ENST00000465115.5:c.*510G>C | ENSP00000428391.1:n.*510G>C | |
| ENST00000493349.1:c.*176G>C | ENSP00000428517.1:n.*176G>C | |
| ENST00000496494.5:n.1726G>C | ||
| NM_000503.5:c.1231G>C | NP_000494.2:p.Ala411Pro | |
| NM_001288574.1:c.1213G>C | NP_001275503.1:p.Ala405Pro | |
| NM_001288575.1:c.865G>C | NP_001275504.1:p.Ala289Pro | |
| NM_172058.3:c.1231G>C | NP_742055.1:p.Ala411Pro | |
| NM_172059.3:c.1126G>C | NP_742056.1:p.Ala376Pro | |
| NM_172060.3:c.1132G>C | NP_742057.1:p.Ala378Pro | |
| XM_011517481.1:c.1303G>C | XP_011515783.1:p.Ala435Pro | |
| XM_011517482.1:c.1318G>C | XP_011515784.1:p.Ala440Pro | |
| XM_011517483.1:c.1228G>C | XP_011515785.1:p.Ala410Pro | |
| XM_011517484.1:c.1216G>C | XP_011515786.1:p.Ala406Pro | |
| XM_011517485.1:c.1231G>C | XP_011515787.1:p.Ala411Pro | |
| XM_011517486.1:c.1231G>C | XP_011515788.1:p.Ala411Pro | |
| XM_011517487.1:c.1231G>C | XP_011515789.1:p.Ala411Pro | |
| XM_011517488.1:c.1228G>C | XP_011515790.1:p.Ala410Pro | |
| XM_011517489.1:c.1168G>C | XP_011515791.1:p.Ala390Pro | |
| XM_011517490.1:c.1132G>C | XP_011515792.1:p.Ala378Pro | |
| XM_011517491.1:c.1132G>C | XP_011515793.1:p.Ala378Pro | |
| XM_011517492.1:c.880G>C | XP_011515794.1:p.Ala294Pro | |
| NM_172059.4:c.1213G>C | NP_742056.2:p.Ala405Pro | |
| XM_011517483.2:c.1228G>C | XP_011515785.1:p.Ala410Pro | |
| XM_011517484.3:c.1303G>C | XP_011515786.2:p.Ala435Pro | |
| XM_017013201.1:c.1318G>C | XP_016868690.1:p.Ala440Pro | |
| XM_017013202.1:c.1318G>C | XP_016868691.1:p.Ala440Pro | |
| XM_017013203.2:c.1315G>C | XP_016868692.1:p.Ala439Pro | |
| XM_017013204.2:c.1300G>C | XP_016868693.1:p.Ala434Pro | |
| XM_017013205.2:c.1318G>C | XP_016868694.1:p.Ala440Pro | |
| XM_017013206.1:c.1231G>C | XP_016868695.1:p.Ala411Pro | |
| XM_017013207.2:c.1228G>C | XP_016868696.1:p.Ala410Pro | |
| XM_017013208.2:c.1228G>C | XP_016868697.1:p.Ala410Pro | |
| XM_017013210.2:c.1210G>C | XP_016868699.1:p.Ala404Pro | |
| XM_017013211.2:c.1168G>C | XP_016868700.1:p.Ala390Pro | |
| XM_017013212.2:c.1132G>C | XP_016868701.1:p.Ala378Pro | |
| XM_017013213.1:c.880G>C | XP_016868702.1:p.Ala294Pro | |
| NM_000503.6:c.1231G>C MANE Select | NP_000494.2:p.Ala411Pro | |
| NM_001288574.2:c.1213G>C | NP_001275503.1:p.Ala405Pro | |
| NM_001288575.2:c.865G>C | NP_001275504.1:p.Ala289Pro | |
| NM_001370333.1:c.1318G>C | NP_001357262.1:p.Ala440Pro | |
| NM_001370334.1:c.1231G>C | NP_001357263.1:p.Ala411Pro | |
| NM_001370335.1:c.1231G>C | NP_001357264.1:p.Ala411Pro | |
| NM_001370336.1:c.1210G>C | NP_001357265.1:p.Ala404Pro | |
| NM_172058.4:c.1231G>C | NP_742055.1:p.Ala411Pro | |
| NM_172059.5:c.1213G>C | NP_742056.2:p.Ala405Pro |