Linked Data
ClinVar Variation Id:
1547023
ClinVar RCV Id:
RCV002173243
dbSNP Id:
rs1855604177
MyVariant Identifiers:
chr11:g.6638653T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617422T>A , CM000673.2:g.6617422T>A | GRCh38 |
| NC_000011.9:g.6638653T>A , CM000673.1:g.6638653T>A | GRCh37 |
| NC_000011.8:g.6595229T>A | NCBI36 |
| NG_008653.1:g.7040A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.273A>T | ENSP00000507321.1:p.Ala91= | |
| ENST00000299427.12:c.387A>T MANE Select | ENSP00000299427.6:p.Ala129= | |
| ENST00000428886.7:n.475A>T | ||
| ENST00000436873.7:c.191A>T | ||
| ENST00000524788.2:n.1399A>T | ||
| ENST00000524903.2:n.1515A>T | ||
| ENST00000528571.6:c.*127A>T | ENSP00000434647.1:n.*127A>T | |
| ENST00000528807.2:n.43A>T | ||
| ENST00000530040.2:n.416A>T | ||
| ENST00000533371.6:c.-343A>T | ENSP00000437066.1:n.-343A>T | |
| ENST00000534644.6:n.388A>T | ||
| ENST00000642892.1:c.-290A>T | ENSP00000494165.1:n.-290A>T | |
| ENST00000643439.1:c.*127A>T | ENSP00000495849.1:n.*127A>T | |
| ENST00000643479.1:n.416A>T | ||
| ENST00000643516.1:c.274A>T | ||
| ENST00000644151.1:n.1679A>T | ||
| ENST00000644218.1:c.387A>T | ENSP00000493574.1:p.Ala129= | |
| ENST00000644683.1:c.387A>T | ENSP00000494085.1:p.Ala129= | |
| ENST00000644810.1:c.230-269A>T | ENSP00000495895.1:n.230-269A>T | |
| ENST00000644831.1:n.416A>T | ||
| ENST00000644933.1:c.-343A>T | ENSP00000496133.1:n.-343A>T | |
| ENST00000645020.1:n.1415A>T | ||
| ENST00000645285.1:c.-343A>T | ENSP00000495058.1:n.-343A>T | |
| ENST00000645331.1:n.606A>T | ||
| ENST00000645620.1:c.-285A>T | ENSP00000493657.1:n.-285A>T | |
| ENST00000646777.1:n.416A>T | ||
| ENST00000647016.1:n.720A>T | ||
| ENST00000647152.1:c.-343A>T | ENSP00000495893.1:n.-343A>T | |
| ENST00000647209.1:c.*256A>T | ENSP00000495558.1:n.*256A>T | |
| ENST00000647346.1:n.1407A>T | ||
| ENST00000299427.10:c.387A>T | ENSP00000299427.6:p.Ala129= | |
| ENST00000428886.6:n.409A>T | ||
| ENST00000436873.6:c.387A>T | ENSP00000398136.2:p.Ala129= | |
| ENST00000528571.5:c.*127A>T | ENSP00000434647.1:n.*127A>T | |
| ENST00000530040.1:n.499A>T | ||
| ENST00000533371.5:c.-343A>T | ENSP00000437066.1:n.-343A>T | |
| ENST00000534644.5:n.372A>T | ||
| ENST00000611494.4:c.387A>T | ENSP00000484546.1:p.Ala129= | |
| NM_000391.3:c.387A>T | NP_000382.3:p.Ala129= | |
| NM_000391.4:c.387A>T MANE Select | NP_000382.3:p.Ala129= |