Linked Data
ClinVar Variation Id:
2712676
ClinVar RCV Id:
RCV003548055
MyVariant Identifiers:
chr11:g.6637628G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616397G>T , CM000673.2:g.6616397G>T | GRCh38 |
| NC_000011.9:g.6637628G>T , CM000673.1:g.6637628G>T | GRCh37 |
| NC_000011.8:g.6594204G>T | NCBI36 |
| NG_008653.1:g.8065C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.879C>A | ENSP00000507321.1:p.Ser293= | |
| ENST00000299427.12:c.993C>A MANE Select | ENSP00000299427.6:p.Ser331= | |
| ENST00000436873.7:c.313-323C>A | ||
| ENST00000533371.6:c.264C>A | ENSP00000437066.1:p.Ser88= | |
| ENST00000642892.1:c.264C>A | ENSP00000494165.1:p.Ser88= | |
| ENST00000643342.1:c.83C>A | ||
| ENST00000643439.1:c.*733C>A | ENSP00000495849.1:n.*733C>A | |
| ENST00000643479.1:n.1179C>A | ||
| ENST00000643516.1:c.502C>A | ||
| ENST00000644218.1:c.886+264C>A | ENSP00000493574.1:n.886+264C>A | |
| ENST00000644683.1:c.*446C>A | ENSP00000494085.1:n.*446C>A | |
| ENST00000644810.1:c.714C>A | ENSP00000495895.1:p.Ser238= | |
| ENST00000644831.1:n.1169C>A | ||
| ENST00000644933.1:c.264C>A | ENSP00000496133.1:p.Ser88= | |
| ENST00000645285.1:c.157+264C>A | ENSP00000495058.1:n.157+264C>A | |
| ENST00000645331.1:n.1516C>A | ||
| ENST00000645620.1:c.264C>A | ENSP00000493657.1:p.Ser88= | |
| ENST00000646691.1:n.86C>A | ||
| ENST00000646777.1:n.1326C>A | ||
| ENST00000647016.1:n.1473C>A | ||
| ENST00000647152.1:c.264C>A | ENSP00000495893.1:p.Ser88= | |
| ENST00000647209.1:c.*862C>A | ENSP00000495558.1:n.*862C>A | |
| ENST00000647346.1:n.2013C>A | ||
| ENST00000299427.10:c.993C>A | ENSP00000299427.6:p.Ser331= | |
| ENST00000533371.5:c.264C>A | ENSP00000437066.1:p.Ser88= | |
| ENST00000611494.4:c.993C>A | ENSP00000484546.1:p.Ser331= | |
| NM_000391.3:c.993C>A | NP_000382.3:p.Ser331= | |
| NM_000391.4:c.993C>A MANE Select | NP_000382.3:p.Ser331= |