Linked Data
ClinVar Variation Id:
488678
dbSNP Id:
rs1554237658
PubMed:
PMID:6499251
PMID:11170086
PMID:16691594
PMID:20086098
PMID:21801163
PMID:22405089
PMID:22426308
PMID:22426309
PMID:23906836
PMID:23929686
PMID:24267886
PMID:24569609
PMID:24674232
PMID:25169814
PMID:25363768
PMID:25674384
PMID:26376624
PMID:26395437
PMID:27389779
PMID:28135719
PMID:28867767
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157206917C>T , CM000668.2:g.157206917C>T | GRCh38 |
| NC_000006.11:g.157528051C>T , CM000668.1:g.157528051C>T | GRCh37 |
| NC_000006.10:g.157569743C>T | NCBI36 |
| NG_032093.1:g.433988C>T | |
| NG_032093.2:g.433988C>T | |
| NG_066624.1:g.435892C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.5986C>T | ENSP00000055163.8:p.Arg1996Ter | |
| ENST00000414678.8:c.6055C>T | ENSP00000412835.3:p.Arg2019Ter | |
| ENST00000637015.2:c.6274C>T | ENSP00000489729.2:p.Arg2092Ter | |
| ENST00000346085.10:c.6025C>T | ENSP00000344546.5:p.Arg2009Ter | |
| ENST00000350026.10:c.5737C>T | ENSP00000055163.7:p.Arg1913Ter | |
| ENST00000414678.7:c.4303C>T | ENSP00000412835.2:p.Arg1435Ter | |
| ENST00000635849.1:c.3466C>T | ENSP00000490948.1:p.Arg1156Ter | |
| ENST00000635928.1:c.301C>T | ENSP00000489717.1:p.Arg101Ter | |
| ENST00000635957.1:c.3097C>T | ENSP00000490385.1:p.Arg1033Ter | |
| ENST00000636227.1:n.4608C>T | ||
| ENST00000636254.1:n.2065C>T | ||
| ENST00000636930.2:c.6145C>T MANE Select | ENSP00000490491.2:p.Arg2049Ter | |
| ENST00000636940.1:n.4142C>T | ||
| ENST00000637015.1:c.3513C>T | ||
| ENST00000637568.1:c.3427C>T | ||
| ENST00000637741.1:n.2811C>T | ||
| ENST00000637810.1:c.3487C>T | ENSP00000489636.1:p.Arg1163Ter | |
| ENST00000637904.1:c.3646C>T | ENSP00000490550.1:p.Arg1216Ter | |
| ENST00000637933.1:n.3260C>T | ||
| ENST00000647938.1:c.5776C>T | ENSP00000498155.1:p.Arg1926Ter | |
| ENST00000346085.9:c.5776C>T | ENSP00000344546.4:p.Arg1926Ter | |
| ENST00000350026.9:c.5737C>T | ENSP00000055163.7:p.Arg1913Ter | |
| ENST00000414678.6:c.4303C>T | ENSP00000412835.2:p.Arg1435Ter | |
| NM_017519.2:c.5737C>T | NP_059989.2:p.Arg1913Ter | |
| NM_020732.3:c.5776C>T | NP_065783.3:p.Arg1926Ter | |
| XM_005267069.3:c.5896C>T | XP_005267126.2:p.Arg1966Ter | |
| XM_011535984.1:c.4975C>T | XP_011534286.1:p.Arg1659Ter | |
| XM_011535985.1:c.4795C>T | XP_011534287.1:p.Arg1599Ter | |
| XM_011535986.1:c.4555C>T | XP_011534288.1:p.Arg1519Ter | |
| XM_011535987.1:c.4174C>T | XP_011534289.1:p.Arg1392Ter | |
| XM_011535988.1:c.3037C>T | XP_011534290.1:p.Arg1013Ter | |
| NM_001346813.1:c.5896C>T | NP_001333742.1:p.Arg1966Ter | |
| NM_001363725.1:c.3646C>T | NP_001350654.1:p.Arg1216Ter | |
| XM_011535984.2:c.6106C>T | XP_011534286.2:p.Arg2036Ter | |
| XM_011535988.3:c.3037C>T | XP_011534290.1:p.Arg1013Ter | |
| XM_017011103.2:c.6007C>T | XP_016866592.1:p.Arg2003Ter | |
| XM_017011104.1:c.5977C>T | XP_016866593.1:p.Arg1993Ter | |
| XM_017011105.2:c.5947C>T | XP_016866594.1:p.Arg1983Ter | |
| XM_017011106.2:c.5818C>T | XP_016866595.1:p.Arg1940Ter | |
| XM_017011107.2:c.5797C>T | XP_016866596.1:p.Arg1933Ter | |
| XR_002956289.1:n.6092C>T | ||
| NM_001363725.2:c.3646C>T | NP_001350654.1:p.Arg1216Ter | |
| NM_001371656.1:c.6025C>T | NP_001358585.1:p.Arg2009Ter | |
| NM_001374820.1:c.6025C>T | NP_001361749.1:p.Arg2009Ter | |
| NM_001374828.1:c.6145C>T MANE Select | NP_001361757.1:p.Arg2049Ter | |
| NM_017519.3:c.5986C>T | NP_059989.3:p.Arg1996Ter |