Linked Data
ClinVar Variation Id:
2123784
ClinVar RCV Id:
RCV003035585
MyVariant Identifiers:
chr11:g.36614960T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36593410T>C , CM000673.2:g.36593410T>C | GRCh38 |
| NC_000011.9:g.36614960T>C , CM000673.1:g.36614960T>C | GRCh37 |
| NC_000011.8:g.36571536T>C | NCBI36 |
| NG_007573.1:g.9827A>G , LRG_99:g.9827A>G | |
| NG_033154.1:g.3918T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.759A>G | ENSP00000436895.2:p.Pro253= | |
| ENST00000529083.2:c.759A>G | ENSP00000436327.2:p.Pro253= | |
| ENST00000532616.2:c.759A>G | ENSP00000432174.2:p.Pro253= | |
| ENST00000311485.8:c.759A>G MANE Select | ENSP00000308620.4:p.Pro253= | |
| ENST00000311485.7:c.759A>G | ENSP00000308620.3:p.Pro253= | |
| ENST00000524423.1:n.131+4692A>G | ||
| ENST00000618712.4:c.759A>G | ENSP00000478672.1:p.Pro253= | |
| NM_000536.3:c.759A>G | NP_000527.2:p.Pro253= | |
| NM_001243785.1:c.759A>G | NP_001230714.1:p.Pro253= | |
| NM_001243786.1:c.759A>G | NP_001230715.1:p.Pro253= | |
| NM_000536.4:c.759A>G MANE Select | NP_000527.2:p.Pro253= | |
| NM_001243785.2:c.759A>G | NP_001230714.1:p.Pro253= | |
| NM_001243786.2:c.759A>G | NP_001230715.1:p.Pro253= |