Linked Data
ClinVar Variation Id:
2094027
ClinVar RCV Id:
RCV002996953
MyVariant Identifiers:
chr11:g.6637947C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616716C>T , CM000673.2:g.6616716C>T | GRCh38 |
| NC_000011.9:g.6637947C>T , CM000673.1:g.6637947C>T | GRCh37 |
| NC_000011.8:g.6594523C>T | NCBI36 |
| NG_008653.1:g.7746G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.717G>A | ENSP00000507321.1:p.Val239= | |
| ENST00000299427.12:c.831G>A MANE Select | ENSP00000299427.6:p.Val277= | |
| ENST00000436873.7:c.312+585G>A | ||
| ENST00000524788.2:n.1990G>A | ||
| ENST00000524903.2:n.2106G>A | ||
| ENST00000528807.2:n.487G>A | ||
| ENST00000530040.2:n.480-213G>A | ||
| ENST00000533371.6:c.102G>A | ENSP00000437066.1:p.Val34= | |
| ENST00000642892.1:c.102G>A | ENSP00000494165.1:p.Val34= | |
| ENST00000643439.1:c.*571G>A | ENSP00000495849.1:n.*571G>A | |
| ENST00000643479.1:n.860G>A | ||
| ENST00000643516.1:c.396-213G>A | ||
| ENST00000644151.1:n.2270G>A | ||
| ENST00000644218.1:c.831G>A | ENSP00000493574.1:p.Val277= | |
| ENST00000644683.1:c.*284G>A | ENSP00000494085.1:n.*284G>A | |
| ENST00000644810.1:c.552G>A | ENSP00000495895.1:p.Val184= | |
| ENST00000644831.1:n.1007G>A | ||
| ENST00000644933.1:c.102G>A | ENSP00000496133.1:p.Val34= | |
| ENST00000645020.1:n.2121G>A | ||
| ENST00000645285.1:c.102G>A | ENSP00000495058.1:p.Val34= | |
| ENST00000645331.1:n.1197G>A | ||
| ENST00000645620.1:c.102G>A | ENSP00000493657.1:p.Val34= | |
| ENST00000646777.1:n.1007G>A | ||
| ENST00000647016.1:n.1311G>A | ||
| ENST00000647152.1:c.102G>A | ENSP00000495893.1:p.Val34= | |
| ENST00000647209.1:c.*700G>A | ENSP00000495558.1:n.*700G>A | |
| ENST00000647346.1:n.1851G>A | ||
| ENST00000299427.10:c.831G>A | ENSP00000299427.6:p.Val277= | |
| ENST00000436873.6:c.451-213G>A | ENSP00000398136.2:n.451-213G>A | |
| ENST00000524788.1:n.531G>A | ||
| ENST00000528807.1:n.381G>A | ||
| ENST00000533371.5:c.102G>A | ENSP00000437066.1:p.Val34= | |
| ENST00000611494.4:c.831G>A | ENSP00000484546.1:p.Val277= | |
| NM_000391.3:c.831G>A | NP_000382.3:p.Val277= | |
| NM_000391.4:c.831G>A MANE Select | NP_000382.3:p.Val277= |