Linked Data
ClinVar Variation Id:
225350
dbSNP Id:
rs201509408
ExAC:
8:72211437 C / A
gnomAD v2:
8-72211437-C-A
gnomAD v3:
8-71299202-C-A
gnomAD v4:
8-71299202-C-A
PubMed:
PMID:23967202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.71299202C>A , CM000670.2:g.71299202C>A | GRCh38 |
| NC_000008.10:g.72211437C>A , CM000670.1:g.72211437C>A | GRCh37 |
| NC_000008.9:g.72373991C>A | NCBI36 |
| NG_011735.2:g.68031G>T | |
| NG_011735.3:g.253929G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340726.8:c.671G>T MANE Select | ENSP00000342626.3:p.Gly224Val | |
| ENST00000388741.7:c.569G>T | ENSP00000373393.2:p.Gly190Val | |
| ENST00000419131.6:c.656G>T | ENSP00000410176.1:p.Gly219Val | |
| ENST00000465115.6:c.589G>T | ENSP00000428391.1:p.Val197Phe | |
| ENST00000496494.6:n.1134G>T | ||
| ENST00000642391.1:c.*438G>T | ENSP00000496700.1:n.*438G>T | |
| ENST00000643681.1:c.758G>T | ENSP00000495390.1:p.Gly253Val | |
| ENST00000644229.1:c.743G>T | ENSP00000494568.1:p.Gly248Val | |
| ENST00000644712.1:c.740G>T | ENSP00000496188.1:p.Gly247Val | |
| ENST00000645793.1:c.671G>T | ENSP00000496255.1:p.Gly224Val | |
| ENST00000647540.1:c.671G>T | ENSP00000494438.1:p.Gly224Val | |
| ENST00000303824.11:c.653G>T | ENSP00000303221.7:p.Gly218Val | |
| ENST00000340726.7:c.671G>T | ENSP00000342626.3:p.Gly224Val | |
| ENST00000388740.4:c.572G>T | ENSP00000373392.3:p.Gly191Val | |
| ENST00000388741.6:c.569G>T | ENSP00000373393.2:p.Gly190Val | |
| ENST00000388742.8:c.671G>T | ENSP00000373394.4:p.Gly224Val | |
| ENST00000388743.6:c.668G>T | ENSP00000373395.2:p.Gly223Val | |
| ENST00000419131.5:c.656G>T | ENSP00000410176.1:p.Gly219Val | |
| ENST00000465115.5:c.589G>T | ENSP00000428391.1:p.Val197Phe | |
| ENST00000496494.5:n.1166G>T | ||
| NM_000503.5:c.671G>T | NP_000494.2:p.Gly224Val | |
| NM_001288574.1:c.653G>T | NP_001275503.1:p.Gly218Val | |
| NM_001288575.1:c.305G>T | NP_001275504.1:p.Gly102Val | |
| NM_172058.3:c.671G>T | NP_742055.1:p.Gly224Val | |
| NM_172059.3:c.656G>T | NP_742056.1:p.Gly219Val | |
| NM_172060.3:c.572G>T | NP_742057.1:p.Gly191Val | |
| XM_011517481.1:c.743G>T | XP_011515783.1:p.Gly248Val | |
| XM_011517482.1:c.758G>T | XP_011515784.1:p.Gly253Val | |
| XM_011517483.1:c.668G>T | XP_011515785.1:p.Gly223Val | |
| XM_011517484.1:c.656G>T | XP_011515786.1:p.Gly219Val | |
| XM_011517485.1:c.671G>T | XP_011515787.1:p.Gly224Val | |
| XM_011517486.1:c.671G>T | XP_011515788.1:p.Gly224Val | |
| XM_011517487.1:c.671G>T | XP_011515789.1:p.Gly224Val | |
| XM_011517488.1:c.668G>T | XP_011515790.1:p.Gly223Val | |
| XM_011517489.1:c.608G>T | XP_011515791.1:p.Gly203Val | |
| XM_011517490.1:c.572G>T | XP_011515792.1:p.Gly191Val | |
| XM_011517491.1:c.572G>T | XP_011515793.1:p.Gly191Val | |
| XM_011517492.1:c.320G>T | XP_011515794.1:p.Gly107Val | |
| NM_172059.4:c.743G>T | NP_742056.2:p.Gly248Val | |
| XM_011517483.2:c.668G>T | XP_011515785.1:p.Gly223Val | |
| XM_011517484.3:c.743G>T | XP_011515786.2:p.Gly248Val | |
| XM_017013201.1:c.758G>T | XP_016868690.1:p.Gly253Val | |
| XM_017013202.1:c.758G>T | XP_016868691.1:p.Gly253Val | |
| XM_017013203.2:c.755G>T | XP_016868692.1:p.Gly252Val | |
| XM_017013204.2:c.740G>T | XP_016868693.1:p.Gly247Val | |
| XM_017013205.2:c.758G>T | XP_016868694.1:p.Gly253Val | |
| XM_017013206.1:c.671G>T | XP_016868695.1:p.Gly224Val | |
| XM_017013207.2:c.758G>T | XP_016868696.1:p.Gly253Val | |
| XM_017013208.2:c.668G>T | XP_016868697.1:p.Gly223Val | |
| XM_017013210.2:c.740G>T | XP_016868699.1:p.Gly247Val | |
| XM_017013211.2:c.608G>T | XP_016868700.1:p.Gly203Val | |
| XM_017013212.2:c.572G>T | XP_016868701.1:p.Gly191Val | |
| XM_017013213.1:c.320G>T | XP_016868702.1:p.Gly107Val | |
| NM_000503.6:c.671G>T MANE Select | NP_000494.2:p.Gly224Val | |
| NM_001288574.2:c.653G>T | NP_001275503.1:p.Gly218Val | |
| NM_001288575.2:c.305G>T | NP_001275504.1:p.Gly102Val | |
| NM_001370333.1:c.758G>T | NP_001357262.1:p.Gly253Val | |
| NM_001370334.1:c.671G>T | NP_001357263.1:p.Gly224Val | |
| NM_001370335.1:c.671G>T | NP_001357264.1:p.Gly224Val | |
| NM_001370336.1:c.740G>T | NP_001357265.1:p.Gly247Val | |
| NM_172058.4:c.671G>T | NP_742055.1:p.Gly224Val | |
| NM_172059.5:c.743G>T | NP_742056.2:p.Gly248Val |