Linked Data
ClinVar Variation Id:
310111
ClinVar RCV Id:
RCV000395620
dbSNP Id:
rs538872981
ExAC:
12:6442254 C / T
gnomAD v2:
12-6442254-C-T
gnomAD v3:
12-6333088-C-T
gnomAD v4:
12-6333088-C-T
COSMIC:
COSM5841689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333088C>T , CM000674.2:g.6333088C>T | GRCh38 |
| NC_000012.11:g.6442254C>T , CM000674.1:g.6442254C>T | GRCh37 |
| NC_000012.10:g.6312515C>T | NCBI36 |
| NG_007506.1:g.14008G>A , LRG_193:g.14008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.566G>A | ||
| ENST00000437813.8:c.532G>A | ENSP00000513672.1:p.Glu178Lys | |
| ENST00000440083.7:c.751G>A | ENSP00000413224.3:p.Glu251Lys | |
| ENST00000535958.2:c.*359G>A | ENSP00000513673.1:n.*359G>A | |
| ENST00000698339.1:c.532G>A | ENSP00000513670.1:p.Glu178Lys | |
| ENST00000698340.1:c.532G>A | ENSP00000513671.1:p.Glu178Lys | |
| ENST00000162749.7:c.532G>A MANE Select | ENSP00000162749.2:p.Glu178Lys | |
| ENST00000162749.6:c.532G>A | ENSP00000162749.2:p.Glu178Lys | |
| ENST00000366159.8:c.532G>A | ENSP00000380389.3:p.Glu178Lys | |
| ENST00000437813.7:n.493G>A | ||
| ENST00000440083.6:c.751G>A | ENSP00000413224.2:p.Glu251Lys | |
| ENST00000534885.5:c.*9G>A | ENSP00000441803.1:n.*9G>A | |
| ENST00000537842.5:n.136G>A | ||
| ENST00000539372.5:c.532G>A | ENSP00000442059.1:p.Glu178Lys | |
| ENST00000540022.5:c.403G>A | ENSP00000438343.1:p.Glu135Lys | |
| ENST00000543048.5:c.*143G>A | ENSP00000439981.1:n.*143G>A | |
| ENST00000543359.5:n.18G>A | ||
| ENST00000543995.5:c.*119G>A | ENSP00000442405.1:n.*119G>A | |
| NM_001065.3:c.532G>A , LRG_193t1:c.532G>A | NP_001056.1:p.Glu178Lys | |
| NM_001346091.1:c.208G>A | NP_001333020.1:p.Glu70Lys | |
| NM_001346092.1:c.-46G>A | NP_001333021.1:n.-46G>A | |
| NR_144351.1:n.835G>A | ||
| NM_001065.4:c.532G>A MANE Select | NP_001056.1:p.Glu178Lys | |
| NM_001346091.2:c.208G>A | NP_001333020.1:p.Glu70Lys | |
| NM_001346092.2:c.-46G>A | NP_001333021.1:n.-46G>A | |
| NR_144351.2:n.794G>A |