Linked Data
ClinVar Variation Id:
1355681
ClinVar RCV Id:
RCV001867044
dbSNP Id:
rs766038334
ExAC:
16:66547651 T / C
gnomAD v2:
16-66547651-T-C
gnomAD v3:
16-66513748-T-C
gnomAD v4:
16-66513748-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66513748T>C , CM000678.2:g.66513748T>C | GRCh38 |
| NC_000016.9:g.66547651T>C , CM000678.1:g.66547651T>C | GRCh37 |
| NC_000016.8:g.65105152T>C | NCBI36 |
| NG_016862.1:g.41665A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.514A>G | ENSP00000299697.9:p.Met172Val | |
| ENST00000417693.8:c.628A>G | ENSP00000407469.5:p.Met210Val | |
| ENST00000451102.7:c.589A>G | ENSP00000414334.4:p.Met197Val | |
| ENST00000527284.6:c.563-1682A>G | ||
| ENST00000527800.6:c.391A>G | ENSP00000433770.1:p.Met131Val | |
| ENST00000544898.6:c.682A>G MANE Select | ENSP00000440898.2:p.Met228Val | |
| ENST00000567357.6:c.*540A>G | ENSP00000457959.2:n.*540A>G | |
| ENST00000569718.6:c.420A>G | ENSP00000464313.2:p.Pro140= | |
| ENST00000620035.5:c.438A>G | ENSP00000483833.2:p.Pro146= | |
| ENST00000676538.1:c.265A>G | ||
| ENST00000676904.1:c.153A>G | ||
| ENST00000677296.1:n.64A>G | ||
| ENST00000677379.1:c.323A>G | ENSP00000503672.1:n.323A>G | |
| ENST00000677420.1:c.391A>G | ENSP00000504648.1:p.Met131Val | |
| ENST00000677555.1:c.391A>G | ENSP00000503331.1:p.Met131Val | |
| ENST00000677715.1:c.391A>G | ENSP00000502950.1:p.Met131Val | |
| ENST00000677753.1:n.64A>G | ||
| ENST00000677961.1:n.94A>G | ||
| ENST00000678015.1:c.391A>G | ENSP00000502959.1:p.Met131Val | |
| ENST00000678190.1:c.64A>G | ENSP00000503824.1:p.Met22Val | |
| ENST00000678282.1:n.64A>G | ||
| ENST00000678297.1:c.391A>G | ENSP00000503472.1:p.Met131Val | |
| ENST00000299697.11:c.682A>G | ENSP00000299697.8:p.Met228Val | |
| ENST00000417693.7:c.754A>G | ENSP00000407469.4:p.Met252Val | |
| ENST00000451102.6:c.808A>G | ENSP00000414334.3:p.Met270Val | |
| ENST00000525974.5:c.391A>G | ENSP00000434594.1:p.Met131Val | |
| ENST00000527284.5:c.589A>G | ENSP00000435312.1:p.Met197Val | |
| ENST00000527800.5:c.391A>G | ENSP00000433770.1:p.Met131Val | |
| ENST00000544898.5:c.682A>G | ENSP00000440898.2:p.Met228Val | |
| ENST00000545043.6:c.607A>G | ENSP00000438143.2:p.Met203Val | |
| ENST00000561527.5:n.241A>G | ||
| ENST00000561728.1:c.131A>G | ||
| ENST00000561905.2:c.36A>G | ||
| ENST00000562552.5:n.498A>G | ||
| ENST00000563099.5:n.209A>G | ||
| ENST00000563369.6:c.391A>G | ENSP00000463560.1:p.Met131Val | |
| ENST00000563478.5:c.391A>G | ||
| ENST00000564792.1:n.337A>G | ||
| ENST00000564917.5:c.733A>G | ENSP00000455187.1:p.Met245Val | |
| ENST00000567357.5:c.*540A>G | ENSP00000457959.1:n.*540A>G | |
| ENST00000569718.5:c.407A>G | ||
| ENST00000620035.4:c.628A>G | ENSP00000483833.1:p.Met210Val | |
| NM_001172643.1:c.589A>G | NP_001166114.1:p.Met197Val | |
| NM_001172644.1:c.607A>G | NP_001166115.1:p.Met203Val | |
| NM_001172645.1:c.628A>G | NP_001166116.1:p.Met210Val | |
| NM_001271934.1:c.535A>G | NP_001258863.1:p.Met179Val | |
| NM_001271935.1:c.420A>G | NP_001258864.1:p.Pro140= | |
| NM_001272050.1:c.391A>G | NP_001258979.1:p.Met131Val | |
| NM_004614.4:c.682A>G | NP_004605.4:p.Met228Val | |
| NR_073520.1:n.1961A>G | ||
| NM_001172644.2:c.607A>G | NP_001166115.1:p.Met203Val | |
| NM_001271934.2:c.535A>G | NP_001258863.1:p.Met179Val | |
| NM_001272050.2:c.391A>G | NP_001258979.1:p.Met131Val | |
| NM_004614.5:c.682A>G MANE Select | NP_004605.4:p.Met228Val | |
| NR_073520.2:n.1671A>G | ||
| NM_001172645.2:c.628A>G | NP_001166116.1:p.Met210Val |