Linked Data
ClinVar Variation Id:
476194
dbSNP Id:
rs137882645
ExAC:
11:72004586 C / A
gnomAD v2:
11-72004586-C-A
gnomAD v3:
11-72293542-C-A
gnomAD v4:
11-72293542-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72293542C>A , CM000673.2:g.72293542C>A | GRCh38 |
| NC_000011.9:g.72004586C>A , CM000673.1:g.72004586C>A | GRCh37 |
| NC_000011.8:g.71682234C>A | NCBI36 |
| NG_042130.1:g.146143G>T | |
| NG_042130.2:g.146143G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535990.6:c.*1549G>T | ENSP00000443822.2:n.*1549G>T | |
| ENST00000695924.1:n.2728G>T | ||
| ENST00000695925.1:n.3440G>T | ||
| ENST00000294053.9:c.1949G>T MANE Plus Clinical | ENSP00000294053.3:p.Arg650Leu | |
| ENST00000535477.6:c.*1284G>T | ENSP00000440423.2:n.*1284G>T | |
| ENST00000538039.6:c.1859G>T MANE Select | ENSP00000441518.1:p.Arg620Leu | |
| ENST00000543042.6:c.1904G>T | ENSP00000439746.2:p.Arg635Leu | |
| ENST00000642187.1:c.1367G>T | ENSP00000494594.1:n.1367G>T | |
| ENST00000645105.1:n.1277G>T | ||
| ENST00000646359.1:n.1037G>T | ||
| ENST00000294053.7:c.1949G>T | ENSP00000294053.3:p.Arg650Leu | |
| ENST00000340729.9:c.1772G>T | ENSP00000340385.5:p.Arg591Leu | |
| ENST00000437826.6:c.1814G>T | ENSP00000407296.2:p.Arg605Leu | |
| ENST00000535477.5:c.*279G>T | ENSP00000440423.1:n.*279G>T | |
| ENST00000535990.5:c.1964G>T | ENSP00000443822.1:p.Arg655Leu | |
| ENST00000538021.5:c.876G>T | ENSP00000445180.2:n.876G>T | |
| ENST00000538039.5:c.1859G>T | ENSP00000441518.1:p.Arg620Leu | |
| ENST00000543042.5:c.1346G>T | ENSP00000439746.1:p.Arg449Leu | |
| NM_001258392.1:c.1859G>T | NP_001245321.1:p.Arg620Leu | |
| NM_001258392.2:c.1859G>T | NP_001245321.1:p.Arg620Leu | |
| NM_001258393.1:c.1772G>T | NP_001245322.1:p.Arg591Leu | |
| NM_001258393.2:c.1772G>T | NP_001245322.1:p.Arg591Leu | |
| NM_001258394.1:c.1814G>T | NP_001245323.1:p.Arg605Leu | |
| NM_001258394.2:c.1814G>T | NP_001245323.1:p.Arg605Leu | |
| NM_030813.4:c.1949G>T | NP_110440.1:p.Arg650Leu | |
| NM_030813.5:c.1949G>T | NP_110440.1:p.Arg650Leu | |
| XM_005274320.1:c.1862G>T | XP_005274377.1:p.Arg621Leu | |
| XM_011545288.1:c.1904G>T | XP_011543590.1:p.Arg635Leu | |
| NM_001258392.3:c.1859G>T MANE Select | NP_001245321.1:p.Arg620Leu | |
| NM_001258393.3:c.1772G>T | NP_001245322.1:p.Arg591Leu | |
| NM_030813.6:c.1949G>T MANE Plus Clinical | NP_110440.1:p.Arg650Leu | |
| NM_001258394.3:c.1814G>T | NP_001245323.1:p.Arg605Leu |