Linked Data
ClinVar Variation Id:
133974
dbSNP Id:
rs144259142
ExAC:
14:95560313 T / C
gnomAD v2:
14-95560313-T-C
gnomAD v3:
14-95093976-T-C
gnomAD v4:
14-95093976-T-C
PubMed:
PMID:24728327
ERepo:
CA158282/MONDO:0017288/024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95093976T>C , CM000676.2:g.95093976T>C | GRCh38 |
| NC_000014.8:g.95560313T>C , CM000676.1:g.95560313T>C | GRCh37 |
| NC_000014.7:g.94630066T>C | NCBI36 |
| NG_016311.1:g.68447A>G , LRG_492:g.68447A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529720.2:c.5276A>G | ENSP00000433926.2:p.Lys1759Arg | |
| ENST00000531162.7:c.5276A>G | ENSP00000433060.3:p.Lys1759Arg | |
| ENST00000674628.2:c.5276A>G | ENSP00000502730.2:p.Lys1759Arg | |
| ENST00000675540.2:c.*1926A>G | ENSP00000501988.2:n.*1926A>G | |
| ENST00000696733.1:c.5276A>G | ENSP00000512838.1:p.Lys1759Arg | |
| ENST00000696734.1:c.5276A>G | ENSP00000512839.1:p.Lys1759Arg | |
| ENST00000696735.1:n.2263A>G | ||
| ENST00000696736.1:c.5276A>G | ENSP00000512840.1:p.Lys1759Arg | |
| ENST00000696920.1:n.5539A>G | ||
| ENST00000696921.1:n.6382A>G | ||
| ENST00000696922.1:n.5685A>G | ||
| ENST00000696923.1:c.5276A>G | ENSP00000512976.1:p.Lys1759Arg | |
| ENST00000696924.1:c.5276A>G | ENSP00000512977.1:p.Lys1759Arg | |
| ENST00000696925.1:n.5685A>G | ||
| ENST00000343455.8:c.5276A>G MANE Select | ENSP00000343745.3:p.Lys1759Arg | |
| ENST00000393063.6:c.5276A>G | ENSP00000376783.1:p.Lys1759Arg | |
| ENST00000526495.6:c.5276A>G | ENSP00000437256.1:p.Lys1759Arg | |
| ENST00000556045.6:c.5276A>G | ENSP00000451041.2:p.Lys1759Arg | |
| ENST00000675540.1:c.3021A>G | ENSP00000501988.1:n.3021A>G | |
| ENST00000675995.1:c.*3592A>G | ENSP00000502591.1:n.*3592A>G | |
| ENST00000343455.7:c.5276A>G | ENSP00000343745.3:p.Lys1759Arg | |
| ENST00000393063.5:c.5276A>G | ENSP00000376783.1:p.Lys1759Arg | |
| ENST00000526495.5:c.5276A>G | ENSP00000437256.1:p.Lys1759Arg | |
| ENST00000527414.5:c.5276A>G | ENSP00000435681.1:p.Lys1759Arg | |
| ENST00000541352.5:c.5276A>G | ENSP00000444719.1:p.Lys1759Arg | |
| ENST00000556045.5:c.1970A>G | ENSP00000451041.1:p.Lys657Arg | |
| NM_001195573.1:c.5276A>G | NP_001182502.1:p.Lys1759Arg | |
| NM_001271282.2:c.5276A>G | NP_001258211.1:p.Lys1759Arg | |
| NM_001291628.1:c.5276A>G | NP_001278557.1:p.Lys1759Arg | |
| NM_030621.4:c.5276A>G | NP_085124.2:p.Lys1759Arg | |
| NM_177438.2:c.5276A>G , LRG_492t1:c.5276A>G | NP_803187.1:p.Lys1759Arg | |
| XM_011536599.1:c.5276A>G | XP_011534901.1:p.Lys1759Arg | |
| XM_011536600.1:c.5276A>G | XP_011534902.1:p.Lys1759Arg | |
| XM_011536601.1:c.5276A>G | XP_011534903.1:p.Lys1759Arg | |
| XM_011536602.1:c.5276A>G | XP_011534904.1:p.Lys1759Arg | |
| XM_011536603.1:c.5276A>G | XP_011534905.1:p.Lys1759Arg | |
| XM_011536604.1:c.4871A>G | XP_011534906.1:p.Lys1624Arg | |
| XM_011536605.1:c.3797A>G | XP_011534907.1:p.Lys1266Arg | |
| XM_011536599.2:c.5276A>G | XP_011534901.1:p.Lys1759Arg | |
| XM_011536600.3:c.5276A>G | XP_011534902.1:p.Lys1759Arg | |
| XM_011536601.3:c.5276A>G | XP_011534903.1:p.Lys1759Arg | |
| XM_011536602.3:c.5276A>G | XP_011534904.1:p.Lys1759Arg | |
| XM_011536604.2:c.4871A>G | XP_011534906.1:p.Lys1624Arg | |
| XM_011536605.2:c.3797A>G | XP_011534907.1:p.Lys1266Arg | |
| XM_017021120.2:c.5276A>G | XP_016876609.1:p.Lys1759Arg | |
| XM_017021121.2:c.5276A>G | XP_016876610.1:p.Lys1759Arg | |
| XM_017021122.2:c.4871A>G | XP_016876611.1:p.Lys1624Arg | |
| XM_017021123.2:c.4871A>G | XP_016876612.1:p.Lys1624Arg | |
| NM_001271282.3:c.5276A>G | NP_001258211.1:p.Lys1759Arg | |
| NM_001291628.2:c.5276A>G | NP_001278557.1:p.Lys1759Arg | |
| NM_177438.3:c.5276A>G MANE Select | NP_803187.1:p.Lys1759Arg | |
| NM_001395677.1:c.5276A>G | NP_001382606.1:p.Lys1759Arg | |
| NM_001395678.1:c.5276A>G | NP_001382607.1:p.Lys1759Arg | |
| NM_001395679.1:c.5276A>G | NP_001382608.1:p.Lys1759Arg | |
| NM_001395680.1:c.5276A>G | NP_001382609.1:p.Lys1759Arg | |
| NM_001395682.1:c.5276A>G | NP_001382611.1:p.Lys1759Arg | |
| NM_001395683.1:c.5276A>G | NP_001382612.1:p.Lys1759Arg | |
| NM_001395684.1:c.5276A>G | NP_001382613.1:p.Lys1759Arg | |
| NM_001395685.1:c.5276A>G | NP_001382614.1:p.Lys1759Arg | |
| NM_001395686.1:c.4994A>G | NP_001382615.1:p.Lys1665Arg | |
| NM_001395687.1:c.4871A>G | NP_001382616.1:p.Lys1624Arg | |
| NM_001395688.1:c.4871A>G | NP_001382617.1:p.Lys1624Arg | |
| NM_001395689.1:c.4871A>G | NP_001382618.1:p.Lys1624Arg | |
| NM_001395690.1:c.4871A>G | NP_001382619.1:p.Lys1624Arg | |
| NM_001395691.1:c.4709A>G | NP_001382620.1:p.Lys1570Arg | |
| NM_001395697.1:c.3593A>G | NP_001382626.1:p.Lys1198Arg | |
| NR_172715.1:n.5694A>G | ||
| NR_172716.1:n.5878A>G | ||
| NR_172717.1:n.5788A>G | ||
| NR_172718.1:n.5711A>G | ||
| NR_172719.1:n.5544A>G | ||
| NR_172720.1:n.5621A>G |