gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66541847T>C , CM000674.2:g.66541847T>C | GRCh38 |
| NC_000012.11:g.66935627T>C , CM000674.1:g.66935627T>C | GRCh37 |
| NC_000012.10:g.65221894T>C | NCBI36 |
| NG_021400.1:g.142299A>G | |
| NG_021400.2:g.532419A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696989.1:c.465A>G | ENSP00000513025.1:p.Val155= | |
| ENST00000359742.9:c.240A>G MANE Select | ENSP00000352780.4:p.Val80= | |
| ENST00000359742.8:c.240A>G | ENSP00000352780.4:p.Val80= | |
| ENST00000398016.7:c.240A>G | ENSP00000381098.3:p.Val80= | |
| ENST00000536215.5:c.72A>G | ENSP00000446011.1:p.Val24= | |
| ENST00000538211.5:c.240A>G | ENSP00000446047.1:p.Val80= | |
| ENST00000539540.5:c.72A>G | ENSP00000443392.1:p.Val24= | |
| ENST00000540433.5:c.72A>G | ENSP00000446024.1:p.Val24= | |
| ENST00000541947.1:c.318A>G | ENSP00000438921.1:p.Val106= | |
| ENST00000542309.5:c.72A>G | ENSP00000438500.1:p.Val24= | |
| ENST00000545666.5:c.159A>G | ENSP00000439124.2:p.Val53= | |
| NM_001178074.1:c.240A>G | NP_001171545.1:p.Val80= | |
| NM_021150.3:c.240A>G | NP_066973.2:p.Val80= | |
| XM_005268754.3:c.243A>G | XP_005268811.1:p.Val81= | |
| XM_005268757.3:c.162A>G | XP_005268814.1:p.Val54= | |
| XM_011538089.1:c.465A>G | XP_011536391.1:p.Val155= | |
| XM_011538090.1:c.465A>G | XP_011536392.1:p.Val155= | |
| XM_011538091.1:c.465A>G | XP_011536393.1:p.Val155= | |
| XM_011538092.1:c.465A>G | XP_011536394.1:p.Val155= | |
| XM_011538093.1:c.240A>G | XP_011536395.1:p.Val80= | |
| XM_011538094.1:c.72A>G | XP_011536396.1:p.Val24= | |
| NM_001366722.1:c.240A>G MANE Select | NP_001353651.1:p.Val80= | |
| NM_001366723.1:c.318A>G | NP_001353652.1:p.Val106= | |
| NM_001366724.1:c.318A>G | NP_001353653.1:p.Val106= | |
| XM_005268754.4:c.243A>G | XP_005268811.1:p.Val81= | |
| XM_005268757.4:c.162A>G | XP_005268814.1:p.Val54= | |
| XM_017019098.1:c.465A>G | XP_016874587.1:p.Val155= | |
| XM_017019099.1:c.318A>G | XP_016874588.1:p.Val106= | |
| XM_017019100.1:c.465A>G | XP_016874589.1:p.Val155= | |
| NM_001178074.2:c.240A>G | NP_001171545.1:p.Val80= | |
| NM_021150.4:c.240A>G | NP_066973.2:p.Val80= | |
| NM_001379345.1:c.318A>G | NP_001366274.1:p.Val106= | |
| NM_001379346.1:c.240A>G | NP_001366275.1:p.Val80= | |
| NM_001379347.1:c.318A>G | NP_001366276.1:p.Val106= | |
| NM_001379348.1:c.318A>G | NP_001366277.1:p.Val106= | |
| NM_001379349.1:c.243A>G | NP_001366278.1:p.Val81= | |
| NM_001379351.1:c.243A>G | NP_001366280.1:p.Val81= |