Linked Data
ClinVar Variation Id:
199113
dbSNP Id:
rs79790275
ExAC:
X:40465004 T / C
gnomAD v2:
X-40465004-T-C
gnomAD v3:
X-40605752-T-C
gnomAD v4:
X-40605752-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.40605752T>C , CM000685.2:g.40605752T>C | GRCh38 |
| NC_000023.10:g.40465004T>C , CM000685.1:g.40465004T>C | GRCh37 |
| NC_000023.9:g.40349948T>C | NCBI36 |
| NG_008874.1:g.29789T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378438.9:c.1047T>C | ENSP00000367697.5:p.Asp349= | |
| ENST00000423649.2:c.816T>C | ENSP00000410105.2:p.Asp272= | |
| ENST00000447485.6:c.*241T>C | ENSP00000411317.2:n.*241T>C | |
| ENST00000635734.1:c.*638T>C | ENSP00000489653.1:n.*638T>C | |
| ENST00000635774.1:c.*518T>C | ENSP00000490733.1:n.*518T>C | |
| ENST00000635829.1:n.1643T>C | ||
| ENST00000636196.1:c.1035T>C | ENSP00000490675.1:p.Asp345= | |
| ENST00000636251.1:c.819T>C | ENSP00000489920.1:p.Asp273= | |
| ENST00000636287.1:c.951T>C | ENSP00000490452.1:p.Asp317= | |
| ENST00000636409.1:c.954T>C | ENSP00000489819.1:p.Asp318= | |
| ENST00000636574.1:c.*616T>C | ENSP00000490345.1:n.*616T>C | |
| ENST00000636580.2:c.1050T>C MANE Select | ENSP00000490083.1:p.Asp350= | |
| ENST00000636639.1:c.*503T>C | ENSP00000490382.1:n.*503T>C | |
| ENST00000636787.1:c.*266T>C | ENSP00000490954.1:n.*266T>C | |
| ENST00000636970.1:c.726T>C | ENSP00000490462.1:p.Asp242= | |
| ENST00000637165.1:c.399T>C | ||
| ENST00000637327.1:c.822T>C | ENSP00000490558.1:p.Asp274= | |
| ENST00000637482.1:c.588T>C | ENSP00000490532.1:p.Asp196= | |
| ENST00000637526.1:c.903T>C | ENSP00000489845.1:p.Asp301= | |
| ENST00000637614.1:c.558T>C | ENSP00000490884.1:p.Asp186= | |
| ENST00000637955.1:c.881T>C | ||
| ENST00000638153.1:c.993T>C | ENSP00000490239.1:p.Asp331= | |
| ENST00000378438.8:c.1050T>C | ENSP00000367697.4:p.Asp350= | |
| NM_005765.2:c.1050T>C | NP_005756.2:p.Asp350= | |
| NM_005765.3:c.1050T>C MANE Select | NP_005756.2:p.Asp350= |