Linked Data
ClinVar Variation Id:
2943131
ClinVar RCV Id:
RCV003800249
MyVariant Identifiers:
chr3:g.33095025A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33053533A>G , CM000665.2:g.33053533A>G | GRCh38 |
| NC_000003.11:g.33095025A>G , CM000665.1:g.33095025A>G | GRCh37 |
| NC_000003.10:g.33070029A>G | NCBI36 |
| NG_009005.1:g.48670T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.750T>C MANE Select | ENSP00000306920.4:p.Asp250= | |
| ENST00000307363.9:c.750T>C | ENSP00000306920.4:p.Asp250= | |
| ENST00000307377.12:c.357T>C | ENSP00000305920.8:p.Asp119= | |
| ENST00000399402.7:c.660T>C | ENSP00000382333.2:p.Asp220= | |
| ENST00000415454.1:c.273T>C | ENSP00000411813.1:p.Asp91= | |
| ENST00000438227.1:c.*242T>C | ENSP00000401250.1:n.*242T>C | |
| ENST00000446732.5:c.*193T>C | ENSP00000407365.1:n.*193T>C | |
| ENST00000482097.5:n.125T>C | ||
| ENST00000485698.5:n.153T>C | ||
| ENST00000498537.5:n.149T>C | ||
| NM_000404.2:c.750T>C | NP_000395.2:p.Asp250= | |
| NM_000404.3:c.750T>C | NP_000395.2:p.Asp250= | |
| NM_001079811.1:c.660T>C | NP_001073279.1:p.Asp220= | |
| NM_001079811.2:c.660T>C | NP_001073279.1:p.Asp220= | |
| NM_001135602.1:c.357T>C | NP_001129074.1:p.Asp119= | |
| NM_001135602.2:c.357T>C | NP_001129074.1:p.Asp119= | |
| NM_001317040.1:c.894T>C | NP_001303969.1:p.Asp298= | |
| NM_000404.4:c.750T>C MANE Select | NP_000395.3:p.Asp250= | |
| NM_001079811.3:c.660T>C | NP_001073279.2:p.Asp220= | |
| NM_001135602.3:c.357T>C | NP_001129074.2:p.Asp119= | |
| NM_001317040.2:c.894T>C | NP_001303969.2:p.Asp298= | |
| NM_001393580.1:c.750T>C | NP_001380509.1:p.Asp250= |