Linked Data
ClinVar Variation Id:
2905554
ClinVar RCV Id:
RCV003639121
MyVariant Identifiers:
chr17:g.38787931A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40631679A>T , CM000679.2:g.40631679A>T | GRCh38 |
| NC_000017.10:g.38787931A>T , CM000679.1:g.38787931A>T | GRCh37 |
| NC_000017.9:g.36041457A>T | NCBI36 |
| NG_032163.1:g.21173T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.729T>A | ENSP00000466608.2:p.Ala243= | |
| ENST00000348513.12:c.729T>A MANE Select | ENSP00000323967.6:p.Ala243= | |
| ENST00000377808.9:c.624T>A | ENSP00000367039.4:p.Ala208= | |
| ENST00000400122.8:c.519T>A | ENSP00000411607.2:p.Ala173= | |
| ENST00000447024.6:c.729T>A | ENSP00000392958.2:p.Ala243= | |
| ENST00000469334.6:n.1327T>A | ||
| ENST00000478349.7:c.681T>A | ENSP00000463216.2:p.Ala227= | |
| ENST00000578044.6:c.519T>A | ENSP00000464511.1:p.Ala173= | |
| ENST00000578112.6:c.*526T>A | ENSP00000464501.1:n.*526T>A | |
| ENST00000580419.6:c.624T>A | ENSP00000462475.2:p.Ala208= | |
| ENST00000580654.6:c.675T>A | ENSP00000464061.2:p.Ala225= | |
| ENST00000642459.1:c.519T>A | ENSP00000496546.1:p.Ala173= | |
| ENST00000642576.1:n.1205T>A | ||
| ENST00000643030.1:n.685T>A | ||
| ENST00000643255.1:c.*2793T>A | ENSP00000493957.1:n.*2793T>A | |
| ENST00000643318.1:c.519T>A | ENSP00000494771.1:p.Ala173= | |
| ENST00000643378.1:n.1284T>A | ||
| ENST00000643580.1:n.83T>A | ||
| ENST00000643683.1:c.729T>A | ENSP00000496094.1:p.Ala243= | |
| ENST00000643893.1:n.1022T>A | ||
| ENST00000644443.1:n.1950T>A | ||
| ENST00000644523.1:n.775T>A | ||
| ENST00000644527.1:c.519T>A | ENSP00000493974.1:p.Ala173= | |
| ENST00000644701.1:c.729T>A | ENSP00000496097.1:p.Ala243= | |
| ENST00000644909.1:c.346T>A | ENSP00000493649.1:p.Ter116Arg | |
| ENST00000645104.1:c.624T>A | ENSP00000496311.1:p.Ala208= | |
| ENST00000645152.1:n.725T>A | ||
| ENST00000645227.1:c.*338T>A | ENSP00000495021.1:n.*338T>A | |
| ENST00000646242.1:n.4921T>A | ||
| ENST00000646283.1:c.537T>A | ENSP00000494537.1:p.Ala179= | |
| ENST00000646401.1:n.1349T>A | ||
| ENST00000646448.1:n.1336T>A | ||
| ENST00000646482.1:c.729T>A | ENSP00000496661.1:p.Ala243= | |
| ENST00000646856.1:c.*526T>A | ENSP00000494505.1:n.*526T>A | |
| ENST00000647294.1:c.*659T>A | ENSP00000494815.1:n.*659T>A | |
| ENST00000647508.1:c.624T>A | ENSP00000496445.1:p.Ala208= | |
| ENST00000647515.1:c.519T>A | ENSP00000495857.1:p.Ala173= | |
| ENST00000264640.8:c.169T>A | ||
| ENST00000348513.10:c.729T>A | ENSP00000323967.6:p.Ala243= | |
| ENST00000377808.8:c.624T>A | ENSP00000367039.4:p.Ala208= | |
| ENST00000400122.7:c.519T>A | ENSP00000411607.2:p.Ala173= | |
| ENST00000431889.6:c.675T>A | ENSP00000445370.1:p.Ala225= | |
| ENST00000447024.5:c.111T>A | ENSP00000392958.1:p.Ala37= | |
| ENST00000469334.5:n.1316T>A | ||
| ENST00000476049.1:c.*1077T>A | ENSP00000463483.1:n.*1077T>A | |
| ENST00000478349.6:c.681T>A | ENSP00000463216.1:p.Ala227= | |
| ENST00000578044.5:c.519T>A | ENSP00000464511.1:p.Ala173= | |
| ENST00000578112.5:c.*526T>A | ENSP00000464501.1:n.*526T>A | |
| ENST00000580419.5:c.624T>A | ENSP00000462475.1:p.Ala208= | |
| NM_003079.4:c.729T>A | NP_003070.3:p.Ala243= | |
| NM_003079.5:c.729T>A MANE Select | NP_003070.3:p.Ala243= |