Linked Data
ClinVar Variation Id:
1372242
ClinVar RCV Id:
RCV001872837
dbSNP Id:
rs576020835
ExAC:
16:66547639 C / G
gnomAD v2:
16-66547639-C-G
gnomAD v3:
16-66513736-C-G
gnomAD v4:
16-66513736-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66513736C>G , CM000678.2:g.66513736C>G | GRCh38 |
| NC_000016.9:g.66547639C>G , CM000678.1:g.66547639C>G | GRCh37 |
| NC_000016.8:g.65105140C>G | NCBI36 |
| NG_016862.1:g.41677G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.526G>C | ENSP00000299697.9:p.Val176Leu | |
| ENST00000417693.8:c.640G>C | ENSP00000407469.5:p.Val214Leu | |
| ENST00000451102.7:c.601G>C | ENSP00000414334.4:p.Val201Leu | |
| ENST00000527284.6:c.563-1670G>C | ||
| ENST00000527800.6:c.403G>C | ENSP00000433770.1:p.Val135Leu | |
| ENST00000544898.6:c.694G>C MANE Select | ENSP00000440898.2:p.Val232Leu | |
| ENST00000567357.6:c.*552G>C | ENSP00000457959.2:n.*552G>C | |
| ENST00000569718.6:c.432G>C | ENSP00000464313.2:p.Leu144= | |
| ENST00000620035.5:c.450G>C | ENSP00000483833.2:p.Leu150= | |
| ENST00000676538.1:c.277G>C | ||
| ENST00000676904.1:c.165G>C | ||
| ENST00000677296.1:n.76G>C | ||
| ENST00000677379.1:c.335G>C | ENSP00000503672.1:n.335G>C | |
| ENST00000677420.1:c.403G>C | ENSP00000504648.1:p.Val135Leu | |
| ENST00000677555.1:c.403G>C | ENSP00000503331.1:p.Val135Leu | |
| ENST00000677715.1:c.403G>C | ENSP00000502950.1:p.Val135Leu | |
| ENST00000677753.1:n.76G>C | ||
| ENST00000677961.1:n.106G>C | ||
| ENST00000678015.1:c.403G>C | ENSP00000502959.1:p.Val135Leu | |
| ENST00000678190.1:c.76G>C | ENSP00000503824.1:p.Val26Leu | |
| ENST00000678282.1:n.76G>C | ||
| ENST00000678297.1:c.403G>C | ENSP00000503472.1:p.Val135Leu | |
| ENST00000299697.11:c.694G>C | ENSP00000299697.8:p.Val232Leu | |
| ENST00000417693.7:c.766G>C | ENSP00000407469.4:p.Val256Leu | |
| ENST00000451102.6:c.820G>C | ENSP00000414334.3:p.Val274Leu | |
| ENST00000525974.5:c.403G>C | ENSP00000434594.1:p.Val135Leu | |
| ENST00000527284.5:c.601G>C | ENSP00000435312.1:p.Val201Leu | |
| ENST00000527800.5:c.403G>C | ENSP00000433770.1:p.Val135Leu | |
| ENST00000544898.5:c.694G>C | ENSP00000440898.2:p.Val232Leu | |
| ENST00000545043.6:c.619G>C | ENSP00000438143.2:p.Val207Leu | |
| ENST00000561527.5:n.253G>C | ||
| ENST00000561728.1:c.143G>C | ||
| ENST00000561905.2:c.48G>C | ||
| ENST00000562552.5:n.510G>C | ||
| ENST00000563099.5:n.221G>C | ||
| ENST00000563369.6:c.403G>C | ENSP00000463560.1:p.Val135Leu | |
| ENST00000564792.1:n.349G>C | ||
| ENST00000564917.5:c.745G>C | ENSP00000455187.1:p.Val249Leu | |
| ENST00000567357.5:c.*552G>C | ENSP00000457959.1:n.*552G>C | |
| ENST00000569718.5:c.419G>C | ||
| ENST00000620035.4:c.640G>C | ENSP00000483833.1:p.Val214Leu | |
| NM_001172643.1:c.601G>C | NP_001166114.1:p.Val201Leu | |
| NM_001172644.1:c.619G>C | NP_001166115.1:p.Val207Leu | |
| NM_001172645.1:c.640G>C | NP_001166116.1:p.Val214Leu | |
| NM_001271934.1:c.547G>C | NP_001258863.1:p.Val183Leu | |
| NM_001271935.1:c.432G>C | NP_001258864.1:p.Leu144= | |
| NM_001272050.1:c.403G>C | NP_001258979.1:p.Val135Leu | |
| NM_004614.4:c.694G>C | NP_004605.4:p.Val232Leu | |
| NR_073520.1:n.1973G>C | ||
| NM_001172644.2:c.619G>C | NP_001166115.1:p.Val207Leu | |
| NM_001271934.2:c.547G>C | NP_001258863.1:p.Val183Leu | |
| NM_001272050.2:c.403G>C | NP_001258979.1:p.Val135Leu | |
| NM_004614.5:c.694G>C MANE Select | NP_004605.4:p.Val232Leu | |
| NR_073520.2:n.1683G>C | ||
| NM_001172645.2:c.640G>C | NP_001166116.1:p.Val214Leu |