Linked Data
ClinVar Variation Id:
310298
dbSNP Id:
rs372970620
ExAC:
12:66747308 A / G
gnomAD v2:
12-66747308-A-G
gnomAD v3:
12-66353528-A-G
gnomAD v4:
12-66353528-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66353528A>G , CM000674.2:g.66353528A>G | GRCh38 |
| NC_000012.11:g.66747308A>G , CM000674.1:g.66747308A>G | GRCh37 |
| NC_000012.10:g.65033575A>G | NCBI36 |
| NG_021400.1:g.330618T>C | |
| NG_021400.2:g.720738T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696989.1:c.3072T>C | ENSP00000513025.1:p.Phe1024= | |
| ENST00000359742.9:c.3048T>C MANE Select | ENSP00000352780.4:p.Phe1016= | |
| ENST00000359742.8:c.3048T>C | ENSP00000352780.4:p.Phe1016= | |
| ENST00000398016.7:c.2892T>C | ENSP00000381098.3:p.Phe964= | |
| ENST00000535323.1:n.684T>C | ||
| ENST00000538164.5:c.2447T>C | ||
| ENST00000538211.5:c.2847T>C | ENSP00000446047.1:p.Phe949= | |
| ENST00000540854.5:c.338-4282T>C | ENSP00000443006.1:n.338-4282T>C | |
| NM_001178074.1:c.2847T>C | NP_001171545.1:p.Phe949= | |
| NM_021150.3:c.2892T>C | NP_066973.2:p.Phe964= | |
| XM_005268754.3:c.3051T>C | XP_005268811.1:p.Phe1017= | |
| XM_005268757.3:c.2970T>C | XP_005268814.1:p.Phe990= | |
| XM_011538089.1:c.3273T>C | XP_011536391.1:p.Phe1091= | |
| XM_011538090.1:c.3228T>C | XP_011536392.1:p.Phe1076= | |
| XM_011538091.1:c.3117T>C | XP_011536393.1:p.Phe1039= | |
| XM_011538092.1:c.3072T>C | XP_011536394.1:p.Phe1024= | |
| XM_011538093.1:c.3048T>C | XP_011536395.1:p.Phe1016= | |
| XM_011538094.1:c.2880T>C | XP_011536396.1:p.Phe960= | |
| NM_001366722.1:c.3048T>C MANE Select | NP_001353651.1:p.Phe1016= | |
| NM_001366723.1:c.2967T>C | NP_001353652.1:p.Phe989= | |
| NM_001366724.1:c.2970T>C | NP_001353653.1:p.Phe990= | |
| XM_005268754.4:c.3051T>C | XP_005268811.1:p.Phe1017= | |
| XM_005268757.4:c.2970T>C | XP_005268814.1:p.Phe990= | |
| XM_017019098.1:c.3228T>C | XP_016874587.1:p.Phe1076= | |
| XM_017019099.1:c.3126T>C | XP_016874588.1:p.Phe1042= | |
| XM_017019100.1:c.3072T>C | XP_016874589.1:p.Phe1024= | |
| NM_001178074.2:c.2847T>C | NP_001171545.1:p.Phe949= | |
| NM_021150.4:c.2892T>C | NP_066973.2:p.Phe964= | |
| NM_001379345.1:c.3126T>C | NP_001366274.1:p.Phe1042= | |
| NM_001379346.1:c.3003T>C | NP_001366275.1:p.Phe1001= | |
| NM_001379347.1:c.2925T>C | NP_001366276.1:p.Phe975= | |
| NM_001379348.1:c.2922T>C | NP_001366277.1:p.Phe974= | |
| NM_001379349.1:c.2895T>C | NP_001366278.1:p.Phe965= | |
| NM_001379351.1:c.2847T>C | NP_001366280.1:p.Phe949= |