Linked Data
ClinVar Variation Id:
966986
ClinVar RCV Id:
RCV001241791
dbSNP Id:
rs774950202
ExAC:
13:51522203 A / C
gnomAD v2:
13-51522203-A-C
gnomAD v3:
13-50948067-A-C
gnomAD v4:
13-50948067-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50948067A>C , CM000675.2:g.50948067A>C | GRCh38 |
| NC_000013.10:g.51522203A>C , CM000675.1:g.51522203A>C | GRCh37 |
| NC_000013.9:g.50420204A>C | NCBI36 |
| NG_009055.1:g.43312A>C , LRG_279:g.43312A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336617.8:c.697A>C MANE Select | ENSP00000337623.2:p.Lys233Gln | |
| ENST00000422660.6:c.697A>C | ENSP00000389877.1:p.Lys233Gln | |
| ENST00000459681.3:n.380A>C | ||
| ENST00000465541.2:n.4A>C | ||
| ENST00000495244.7:n.708A>C | ||
| ENST00000611510.5:c.607A>C | ENSP00000481236.3:p.Lys203Gln | |
| ENST00000616907.2:c.697A>C | ENSP00000482701.2:p.Lys233Gln | |
| ENST00000642207.1:c.436A>C | ||
| ENST00000642454.1:c.607A>C | ENSP00000494221.1:p.Lys203Gln | |
| ENST00000642721.1:c.697A>C | ENSP00000495650.1:p.Lys233Gln | |
| ENST00000642995.1:c.580A>C | ENSP00000493499.1:p.Lys194Gln | |
| ENST00000643159.1:c.607A>C | ENSP00000495587.1:p.Lys203Gln | |
| ENST00000643215.1:c.567A>C | ||
| ENST00000643405.1:c.345A>C | ||
| ENST00000643529.1:c.210A>C | ||
| ENST00000643682.1:c.697A>C | ENSP00000493655.1:p.Lys233Gln | |
| ENST00000643774.1:c.661A>C | ENSP00000495482.1:p.Lys221Gln | |
| ENST00000644034.1:c.145A>C | ENSP00000495456.1:p.Lys49Gln | |
| ENST00000644183.1:c.587A>C | ENSP00000495657.1:n.587A>C | |
| ENST00000644297.1:c.*555A>C | ENSP00000495519.1:n.*555A>C | |
| ENST00000644420.1:n.723A>C | ||
| ENST00000644425.1:c.648A>C | ||
| ENST00000644518.1:c.*564A>C | ENSP00000495793.1:n.*564A>C | |
| ENST00000645188.1:c.688A>C | ENSP00000496224.1:p.Lys230Gln | |
| ENST00000645201.1:n.94A>C | ||
| ENST00000645333.1:n.629A>C | ||
| ENST00000645370.1:c.532A>C | ENSP00000494019.1:p.Lys178Gln | |
| ENST00000645618.1:c.607A>C | ENSP00000495429.1:p.Lys203Gln | |
| ENST00000645712.1:n.721A>C | ||
| ENST00000645912.1:c.35A>C | ||
| ENST00000645955.1:c.697A>C | ENSP00000495755.1:p.Lys233Gln | |
| ENST00000645990.1:c.697A>C | ENSP00000496571.1:p.Lys233Gln | |
| ENST00000646092.1:c.661A>C | ENSP00000496293.1:p.Lys221Gln | |
| ENST00000646279.1:n.994A>C | ||
| ENST00000646339.1:c.359A>C | ENSP00000495773.1:n.359A>C | |
| ENST00000646709.1:c.607A>C | ENSP00000495278.1:p.Lys203Gln | |
| ENST00000646731.1:c.688A>C | ENSP00000493828.1:p.Lys230Gln | |
| ENST00000646960.1:c.697A>C | ENSP00000496481.1:p.Lys233Gln | |
| ENST00000646964.1:n.1336A>C | ||
| ENST00000647387.1:c.607A>C | ENSP00000495487.1:p.Lys203Gln | |
| ENST00000336617.7:c.697A>C | ENSP00000337623.2:p.Lys233Gln | |
| ENST00000422660.5:c.697A>C | ENSP00000389877.1:p.Lys233Gln | |
| ENST00000495244.6:n.708A>C | ||
| ENST00000611510.4:c.697A>C | ENSP00000481236.2:p.Lys233Gln | |
| ENST00000613449.4:n.2759A>C | ||
| ENST00000616907.1:c.80A>C | ||
| ENST00000621641.1:n.285A>C | ||
| NM_001142279.2:c.697A>C , LRG_279t1:c.697A>C | NP_001135751.1:p.Lys233Gln | |
| NM_024570.3:c.697A>C , LRG_279t2:c.697A>C | NP_078846.2:p.Lys233Gln | |
| XM_005266524.2:c.697A>C | XP_005266581.1:p.Lys233Gln | |
| XM_005266525.2:c.697A>C | XP_005266582.1:p.Lys233Gln | |
| XM_006719867.2:c.679A>C | XP_006719930.1:p.Lys227Gln | |
| XM_011535229.1:c.697A>C | XP_011533531.1:p.Lys233Gln | |
| XM_011535230.1:c.697A>C | XP_011533532.1:p.Lys233Gln | |
| XM_011535231.1:c.697A>C | XP_011533533.1:p.Lys233Gln | |
| XM_011535232.1:c.535A>C | XP_011533534.1:p.Lys179Gln | |
| XM_011535233.1:c.289A>C | XP_011533535.1:p.Lys97Gln | |
| XM_006719867.4:c.679A>C | XP_006719930.1:p.Lys227Gln | |
| XM_011535230.2:c.697A>C | XP_011533532.1:p.Lys233Gln | |
| XM_011535231.2:c.697A>C | XP_011533533.1:p.Lys233Gln | |
| XM_011535233.2:c.289A>C | XP_011533535.1:p.Lys97Gln | |
| XM_017020747.1:c.697A>C | XP_016876236.1:p.Lys233Gln | |
| NM_024570.4:c.697A>C MANE Select | NP_078846.2:p.Lys233Gln |