Linked Data
ClinVar Variation Id:
2396747
ClinVar RCV Id:
RCV002729983
dbSNP Id:
rs764558448
ExAC:
8:6302664 C / A
gnomAD v2:
8-6302664-C-A
gnomAD v4:
8-6445143-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6445143C>A , CM000670.2:g.6445143C>A | GRCh38 |
| NC_000008.10:g.6302664C>A , CM000670.1:g.6302664C>A | GRCh37 |
| NC_000008.9:g.6290072C>A | NCBI36 |
| NG_016619.1:g.43552C>A | |
| NG_016619.2:g.43552C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519480.6:c.1421C>A | ENSP00000430962.1:p.Thr474Asn | |
| ENST00000685179.1:c.1415C>A | ENSP00000510001.1:p.Thr472Asn | |
| ENST00000686750.1:c.1331C>A | ENSP00000509053.1:p.Thr444Asn | |
| ENST00000687577.1:n.2982C>A | ||
| ENST00000687720.1:c.*1369C>A | ENSP00000510728.1:n.*1369C>A | |
| ENST00000687874.1:n.685+2987C>A | ||
| ENST00000688099.1:c.*1700C>A | ENSP00000509622.1:n.*1700C>A | |
| ENST00000688101.1:c.841C>A | ||
| ENST00000688388.1:c.1421C>A | ENSP00000510092.1:p.Thr474Asn | |
| ENST00000688452.1:c.*940C>A | ENSP00000510556.1:n.*940C>A | |
| ENST00000688658.1:n.261C>A | ||
| ENST00000688912.1:n.1432C>A | ||
| ENST00000689348.1:c.1421C>A | ENSP00000509554.1:p.Thr474Asn | |
| ENST00000689633.1:c.1421C>A | ENSP00000509054.1:p.Thr474Asn | |
| ENST00000689736.1:c.670+2987C>A | ENSP00000509722.1:n.670+2987C>A | |
| ENST00000690159.1:c.*1700C>A | ENSP00000510482.1:n.*1700C>A | |
| ENST00000690518.1:c.*1161C>A | ENSP00000509135.1:n.*1161C>A | |
| ENST00000690682.1:c.*1316C>A | ENSP00000509896.1:n.*1316C>A | |
| ENST00000690708.1:c.670+2987C>A | ENSP00000510400.1:n.670+2987C>A | |
| ENST00000690826.1:c.1421C>A | ENSP00000510536.1:p.Thr474Asn | |
| ENST00000691435.1:c.1421C>A | ENSP00000510652.1:p.Thr474Asn | |
| ENST00000691655.1:c.*680+2987C>A | ENSP00000509652.1:n.*680+2987C>A | |
| ENST00000691738.1:n.1629C>A | ||
| ENST00000692534.1:c.203+638C>A | ||
| ENST00000692836.1:c.1421C>A | ENSP00000509971.1:p.Thr474Asn | |
| ENST00000692938.1:c.1421C>A | ENSP00000509072.1:p.Thr474Asn | |
| ENST00000693231.1:c.*1161C>A | ENSP00000510764.1:n.*1161C>A | |
| ENST00000344683.10:c.1421C>A MANE Select | ENSP00000342924.5:p.Thr474Asn | |
| ENST00000344683.9:c.1421C>A | ENSP00000342924.5:p.Thr474Asn | |
| ENST00000519480.5:c.1421C>A | ENSP00000430962.1:p.Thr474Asn | |
| ENST00000522905.1:c.1277C>A | ENSP00000430768.1:p.Thr426Asn | |
| NM_001172574.1:c.1421C>A | NP_001166045.1:p.Thr474Asn | |
| NM_001172575.1:c.1277C>A | NP_001166046.1:p.Thr426Asn | |
| NM_024596.3:c.1421C>A | NP_078872.2:p.Thr474Asn | |
| XM_011534755.1:c.1421C>A | XP_011533057.1:p.Thr474Asn | |
| XM_011534756.1:c.1421C>A | XP_011533058.1:p.Thr474Asn | |
| XM_011534757.1:c.1421C>A | XP_011533059.1:p.Thr474Asn | |
| XM_011534758.1:c.1421C>A | XP_011533060.1:p.Thr474Asn | |
| XM_011534759.1:c.1421C>A | XP_011533061.1:p.Thr474Asn | |
| XM_011534760.1:c.896C>A | XP_011533062.1:p.Thr299Asn | |
| NM_001322042.1:c.1421C>A | NP_001308971.1:p.Thr474Asn | |
| NM_001322043.1:c.1415C>A | NP_001308972.1:p.Thr472Asn | |
| NM_001322045.1:c.1319C>A | NP_001308974.1:p.Thr440Asn | |
| NM_001363979.1:c.1421C>A | NP_001350908.1:p.Thr474Asn | |
| NM_001363980.1:c.1421C>A | NP_001350909.1:p.Thr474Asn | |
| NM_024596.4:c.1421C>A | NP_078872.2:p.Thr474Asn | |
| NR_136159.1:n.1382C>A | ||
| XM_011534755.3:c.1421C>A | XP_011533057.1:p.Thr474Asn | |
| XM_011534756.3:c.1421C>A | XP_011533058.1:p.Thr474Asn | |
| XM_011534757.3:c.1421C>A | XP_011533059.1:p.Thr474Asn | |
| XM_011534758.3:c.1421C>A | XP_011533060.1:p.Thr474Asn | |
| XM_011534759.3:c.1421C>A | XP_011533061.1:p.Thr474Asn | |
| XM_011534760.2:c.896C>A | XP_011533062.1:p.Thr299Asn | |
| XM_017013829.2:c.1421C>A | XP_016869318.1:p.Thr474Asn | |
| XM_017013831.2:c.1421C>A | XP_016869320.1:p.Thr474Asn | |
| XM_017013832.2:c.1421C>A | XP_016869321.1:p.Thr474Asn | |
| XM_017013833.2:c.1421C>A | XP_016869322.1:p.Thr474Asn | |
| XR_001745596.2:n.1474C>A | ||
| NM_024596.5:c.1421C>A MANE Select | NP_078872.3:p.Thr474Asn | |
| NM_001322042.2:c.1421C>A | NP_001308971.2:p.Thr474Asn | |
| NM_001363980.2:c.1421C>A | NP_001350909.1:p.Thr474Asn | |
| NM_001172574.2:c.1421C>A | NP_001166045.2:p.Thr474Asn | |
| NM_001172575.2:c.1277C>A | NP_001166046.1:p.Thr426Asn | |
| NM_001322043.2:c.1415C>A | NP_001308972.2:p.Thr472Asn | |
| NM_001322045.2:c.1319C>A | NP_001308974.2:p.Thr440Asn | |
| NR_136159.2:n.1347C>A |