Linked Data
ClinVar Variation Id:
1572514
dbSNP Id:
rs2132958298
MyVariant Identifiers:
chr11:g.32421551G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32400005G>A , CM000673.2:g.32400005G>A | GRCh38 |
| NC_000011.9:g.32421551G>A , CM000673.1:g.32421551G>A | GRCh37 |
| NC_000011.8:g.32378127G>A | NCBI36 |
| NG_009272.1:g.40537C>T , LRG_525:g.40537C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1005C>T | ENSP00000331327.5:p.Pro335= | |
| ENST00000379077.9:c.*240C>T | ENSP00000368368.5:n.*240C>T | |
| ENST00000379079.8:c.405C>T | ENSP00000368370.2:p.Pro135= | |
| ENST00000448076.9:c.1056C>T | ENSP00000413452.5:p.Pro352= | |
| ENST00000452863.10:c.1056C>T MANE Select | ENSP00000415516.5:p.Pro352= | |
| ENST00000526685.2:n.510C>T | ||
| ENST00000639563.3:c.1005C>T | ENSP00000492269.3:p.Pro335= | |
| ENST00000639907.2:n.199C>T | ||
| ENST00000640146.2:c.381C>T | ENSP00000491984.2:p.Pro127= | |
| ENST00000651794.1:n.799C>T | ||
| ENST00000652579.1:n.216C>T | ||
| ENST00000652724.1:n.246C>T | ||
| ENST00000332351.7:c.1041C>T | ENSP00000331327.3:p.Pro347= | |
| ENST00000379077.7:c.*240C>T | ENSP00000368368.3:n.*240C>T | |
| ENST00000379079.6:c.405C>T | ENSP00000368370.2:p.Pro135= | |
| ENST00000448076.7:c.1041C>T | ENSP00000413452.3:p.Pro347= | |
| ENST00000452863.7:c.990C>T | ENSP00000415516.3:p.Pro330= | |
| ENST00000526685.1:c.-133C>T | ENSP00000436292.1:n.-133C>T | |
| ENST00000527775.1:c.294C>T | ENSP00000435351.1:p.Pro98= | |
| ENST00000527882.5:c.112C>T | ||
| ENST00000530998.5:c.354C>T | ENSP00000435307.1:p.Pro118= | |
| NM_000378.4:c.990C>T | NP_000369.3:p.Pro330= | |
| NM_001198551.1:c.405C>T , LRG_525t2:c.405C>T | NP_001185480.1:p.Pro135= | |
| NM_001198552.1:c.354C>T | NP_001185481.1:p.Pro118= | |
| NM_024424.3:c.1041C>T | NP_077742.2:p.Pro347= | |
| NM_024426.4:c.1041C>T | NP_077744.3:p.Pro347= | |
| NM_000378.5:c.1005C>T | NP_000369.4:p.Pro335= | |
| NM_024424.4:c.1056C>T | NP_077742.3:p.Pro352= | |
| NM_024426.5:c.1056C>T | NP_077744.4:p.Pro352= | |
| NM_001367854.1:c.-133C>T | NP_001354783.1:n.-133C>T | |
| NR_160306.1:n.1388C>T | ||
| NM_000378.6:c.1005C>T | NP_000369.4:p.Pro335= | |
| NM_001198552.2:c.354C>T | NP_001185481.1:p.Pro118= | |
| NM_024424.5:c.1056C>T | NP_077742.3:p.Pro352= | |
| NM_024426.6:c.1056C>T MANE Select | NP_077744.4:p.Pro352= |