Linked Data
ClinVar Variation Id:
227419
dbSNP Id:
rs144494437
ExAC:
12:66786171 A / C
gnomAD v2:
12-66786171-A-C
gnomAD v3:
12-66392391-A-C
gnomAD v4:
12-66392391-A-C
PubMed:
PMID:21383172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66392391A>C , CM000674.2:g.66392391A>C | GRCh38 |
| NC_000012.11:g.66786171A>C , CM000674.1:g.66786171A>C | GRCh37 |
| NC_000012.10:g.65072438A>C | NCBI36 |
| NG_021400.1:g.291755T>G | |
| NG_021400.2:g.681875T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696989.1:c.2450T>G | ENSP00000513025.1:p.Met817Arg | |
| ENST00000359742.9:c.2381T>G MANE Select | ENSP00000352780.4:p.Met794Arg | |
| ENST00000359742.8:c.2381T>G | ENSP00000352780.4:p.Met794Arg | |
| ENST00000398016.7:c.2225T>G | ENSP00000381098.3:p.Met742Arg | |
| ENST00000536215.5:c.1901T>G | ENSP00000446011.1:p.Met634Arg | |
| ENST00000538164.5:c.1825T>G | ||
| ENST00000538211.5:c.2225T>G | ENSP00000446047.1:p.Met742Arg | |
| ENST00000540433.5:c.2057T>G | ENSP00000446024.1:p.Met686Arg | |
| ENST00000540854.5:c.338-43145T>G | ENSP00000443006.1:n.338-43145T>G | |
| ENST00000541299.1:n.142T>G | ||
| NM_001178074.1:c.2225T>G | NP_001171545.1:p.Met742Arg | |
| NM_021150.3:c.2225T>G | NP_066973.2:p.Met742Arg | |
| XM_005268754.3:c.2384T>G | XP_005268811.1:p.Met795Arg | |
| XM_005268757.3:c.2303T>G | XP_005268814.1:p.Met768Arg | |
| XM_011538089.1:c.2606T>G | XP_011536391.1:p.Met869Arg | |
| XM_011538090.1:c.2606T>G | XP_011536392.1:p.Met869Arg | |
| XM_011538091.1:c.2450T>G | XP_011536393.1:p.Met817Arg | |
| XM_011538092.1:c.2450T>G | XP_011536394.1:p.Met817Arg | |
| XM_011538093.1:c.2381T>G | XP_011536395.1:p.Met794Arg | |
| XM_011538094.1:c.2213T>G | XP_011536396.1:p.Met738Arg | |
| NM_001366722.1:c.2381T>G MANE Select | NP_001353651.1:p.Met794Arg | |
| NM_001366723.1:c.2300T>G | NP_001353652.1:p.Met767Arg | |
| NM_001366724.1:c.2303T>G | NP_001353653.1:p.Met768Arg | |
| XM_005268754.4:c.2384T>G | XP_005268811.1:p.Met795Arg | |
| XM_005268757.4:c.2303T>G | XP_005268814.1:p.Met768Arg | |
| XM_017019098.1:c.2606T>G | XP_016874587.1:p.Met869Arg | |
| XM_017019099.1:c.2459T>G | XP_016874588.1:p.Met820Arg | |
| XM_017019100.1:c.2450T>G | XP_016874589.1:p.Met817Arg | |
| NM_001178074.2:c.2225T>G | NP_001171545.1:p.Met742Arg | |
| NM_021150.4:c.2225T>G | NP_066973.2:p.Met742Arg | |
| NM_001379345.1:c.2459T>G | NP_001366274.1:p.Met820Arg | |
| NM_001379346.1:c.2381T>G | NP_001366275.1:p.Met794Arg | |
| NM_001379347.1:c.2303T>G | NP_001366276.1:p.Met768Arg | |
| NM_001379348.1:c.2300T>G | NP_001366277.1:p.Met767Arg | |
| NM_001379349.1:c.2228T>G | NP_001366278.1:p.Met743Arg | |
| NM_001379351.1:c.2225T>G | NP_001366280.1:p.Met742Arg |