Linked Data
ClinVar Variation Id:
2094842
ClinVar RCV Id:
RCV003025598
MyVariant Identifiers:
chr11:g.35282459A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35260912A>T , CM000673.2:g.35260912A>T | GRCh38 |
| NC_000011.9:g.35282459A>T , CM000673.1:g.35282459A>T | GRCh37 |
| NC_000011.8:g.35239035A>T | NCBI36 |
| NG_008727.1:g.163647T>A | |
| NG_008727.2:g.163647T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278379.9:c.1707T>A MANE Select | ENSP00000278379.3:p.Pro569= | |
| ENST00000395750.6:c.1695T>A | ENSP00000379099.2:p.Pro565= | |
| ENST00000395753.6:c.1680T>A | ENSP00000379102.1:p.Pro560= | |
| ENST00000479543.2:n.1259T>A | ||
| ENST00000642171.1:c.*89T>A | ENSP00000495538.1:n.*89T>A | |
| ENST00000642448.1:n.1799T>A | ||
| ENST00000642769.1:c.973T>A | ||
| ENST00000643000.1:c.1680T>A | ENSP00000495164.1:p.Pro560= | |
| ENST00000643134.1:c.1694T>A | ENSP00000495188.1:p.Leu565His | |
| ENST00000643522.1:c.1473T>A | ENSP00000496375.1:p.Pro491= | |
| ENST00000644050.1:c.1680T>A | ENSP00000496123.1:p.Pro560= | |
| ENST00000644299.1:c.1680T>A | ENSP00000494669.1:p.Pro560= | |
| ENST00000644459.1:c.*199T>A | ENSP00000495861.1:n.*199T>A | |
| ENST00000644779.1:c.1818T>A | ENSP00000494258.1:p.Pro606= | |
| ENST00000644868.1:c.1769T>A | ENSP00000496760.1:n.1769T>A | |
| ENST00000645194.1:c.1680T>A | ENSP00000496093.1:p.Pro560= | |
| ENST00000645303.1:c.1722T>A | ENSP00000496667.1:p.Pro574= | |
| ENST00000645542.1:n.413T>A | ||
| ENST00000645634.1:c.1680T>A | ENSP00000493945.1:p.Pro560= | |
| ENST00000646080.1:c.1698T>A | ENSP00000494113.1:p.Pro566= | |
| ENST00000647076.1:c.448T>A | ||
| ENST00000647104.1:c.1680T>A | ENSP00000494025.1:p.Pro560= | |
| ENST00000278379.7:c.1707T>A | ENSP00000278379.3:p.Pro569= | |
| ENST00000395750.5:c.1680T>A | ENSP00000379099.1:p.Pro560= | |
| ENST00000395753.5:c.1680T>A | ENSP00000379102.1:p.Pro560= | |
| ENST00000464522.2:c.219+4615T>A | ENSP00000435406.1:n.219+4615T>A | |
| ENST00000479543.1:n.523T>A | ||
| NM_001195728.2:c.1680T>A | NP_001182657.1:p.Pro560= | |
| NM_001252652.1:c.1680T>A | NP_001239581.1:p.Pro560= | |
| NM_004171.3:c.1707T>A | NP_004162.2:p.Pro569= | |
| XM_005253067.1:c.1698T>A | XP_005253124.1:p.Pro566= | |
| XM_011520284.1:c.1755T>A | XP_011518586.1:p.Pro585= | |
| XM_011520285.1:c.1695T>A | XP_011518587.1:p.Pro565= | |
| XM_011520286.1:c.1620T>A | XP_011518588.1:p.Pro540= | |
| XM_011520287.1:c.1521T>A | XP_011518589.1:p.Pro507= | |
| XM_011520285.2:c.1695T>A | XP_011518587.1:p.Pro565= | |
| XM_017018136.1:c.1722T>A | XP_016873625.1:p.Pro574= | |
| XM_017018137.1:c.1680T>A | XP_016873626.1:p.Pro560= | |
| XM_017018138.1:c.1680T>A | XP_016873627.1:p.Pro560= | |
| XM_017018139.1:c.1473T>A | XP_016873628.1:p.Pro491= | |
| NM_004171.4:c.1707T>A MANE Select | NP_004162.2:p.Pro569= | |
| NM_001195728.3:c.1680T>A | NP_001182657.1:p.Pro560= | |
| NM_001252652.2:c.1680T>A | NP_001239581.1:p.Pro560= |