Linked Data
ClinVar Variation Id:
301385
ClinVar RCV Id:
RCV000386124
dbSNP Id:
rs569595849
gnomAD v2:
10-88811153-A-C
gnomAD v3:
10-87051396-A-C
gnomAD v4:
10-87051396-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87051396A>C , CM000672.2:g.87051396A>C | GRCh38 |
| NC_000010.10:g.88811153A>C , CM000672.1:g.88811153A>C | GRCh37 |
| NC_000010.9:g.88801133A>C | NCBI36 |
| NG_013010.1:g.48624T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474574.2:n.3607T>G | ||
| ENST00000487058.2:n.1779T>G | ||
| ENST00000681987.1:n.1870T>G | ||
| ENST00000681988.1:c.*355T>G | ENSP00000507316.1:n.*355T>G | |
| ENST00000682396.1:c.2023T>G | ENSP00000506764.1:n.2023T>G | |
| ENST00000682507.1:c.*355T>G | ENSP00000508098.1:n.*355T>G | |
| ENST00000682622.1:c.2312T>G | ENSP00000506732.1:n.2312T>G | |
| ENST00000683022.1:c.2053T>G | ||
| ENST00000683256.1:c.*355T>G | ENSP00000507901.1:n.*355T>G | |
| ENST00000683269.1:c.*355T>G | ENSP00000508107.1:n.*355T>G | |
| ENST00000683647.1:n.5366T>G | ||
| ENST00000683649.1:n.882T>G | ||
| ENST00000683783.1:c.*355T>G | ENSP00000507881.1:n.*355T>G | |
| ENST00000683813.1:n.1760T>G | ||
| ENST00000684032.1:c.1887T>G | ENSP00000506969.1:n.1887T>G | |
| ENST00000684201.1:c.*355T>G | ENSP00000507887.1:n.*355T>G | |
| ENST00000684338.1:c.2110T>G | ENSP00000507457.1:n.2110T>G | |
| ENST00000684434.1:c.1503T>G | ||
| ENST00000684546.1:c.*355T>G | ENSP00000507729.1:n.*355T>G | |
| ENST00000684665.1:n.996T>G | ||
| ENST00000684690.1:n.2259T>G | ||
| ENST00000684699.1:n.4611T>G | ||
| ENST00000277865.5:c.*355T>G MANE Select | ENSP00000277865.4:n.*355T>G | |
| ENST00000277865.4:c.*355T>G | ENSP00000277865.4:n.*355T>G | |
| NM_005271.3:c.*355T>G | NP_005262.1:n.*355T>G | |
| XM_011539668.1:c.*355T>G | XP_011537970.1:n.*355T>G | |
| XM_011539669.1:c.*355T>G | XP_011537971.1:n.*355T>G | |
| NM_001318900.1:c.*355T>G | NP_001305829.1:n.*355T>G | |
| NM_001318901.1:c.*355T>G | NP_001305830.1:n.*355T>G | |
| NM_001318902.1:c.*355T>G | NP_001305831.1:n.*355T>G | |
| NM_001318904.1:c.*355T>G | NP_001305833.1:n.*355T>G | |
| NM_001318905.1:c.*355T>G | NP_001305834.1:n.*355T>G | |
| NM_001318906.1:c.*355T>G | NP_001305835.1:n.*355T>G | |
| NM_005271.4:c.*355T>G | NP_005262.1:n.*355T>G | |
| NM_005271.5:c.*355T>G MANE Select | NP_005262.1:n.*355T>G | |
| NM_001318904.2:c.*355T>G | NP_001305833.1:n.*355T>G | |
| NM_001318905.2:c.*355T>G | NP_001305834.1:n.*355T>G | |
| NM_001318906.2:c.*355T>G | NP_001305835.1:n.*355T>G |