Linked Data
ClinVar Variation Id:
97701
ClinVar RCV Id:
RCV000083954
dbSNP Id:
rs104895286
gnomAD v3:
12-6333426-T-G
gnomAD v4:
12-6333426-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333426T>G , CM000674.2:g.6333426T>G | GRCh38 |
| NC_000012.11:g.6442592T>G , CM000674.1:g.6442592T>G | GRCh37 |
| NC_000012.10:g.6312853T>G | NCBI36 |
| NG_007506.1:g.13670A>C , LRG_193:g.13670A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.447A>C | ||
| ENST00000437813.8:c.413A>C | ENSP00000513672.1:p.Glu138Ala | |
| ENST00000440083.7:c.413A>C | ENSP00000413224.3:p.Glu138Ala | |
| ENST00000535958.2:c.*240A>C | ENSP00000513673.1:n.*240A>C | |
| ENST00000698339.1:c.413A>C | ENSP00000513670.1:p.Glu138Ala | |
| ENST00000698340.1:c.413A>C | ENSP00000513671.1:p.Glu138Ala | |
| ENST00000162749.7:c.413A>C MANE Select | ENSP00000162749.2:p.Glu138Ala | |
| ENST00000162749.6:c.413A>C | ENSP00000162749.2:p.Glu138Ala | |
| ENST00000366159.8:c.413A>C | ENSP00000380389.3:p.Glu138Ala | |
| ENST00000437813.7:n.374A>C | ||
| ENST00000440083.6:c.413A>C | ENSP00000413224.2:p.Glu138Ala | |
| ENST00000534885.5:c.259A>C | ENSP00000441803.1:p.Lys87Gln | |
| ENST00000537842.5:n.17A>C | ||
| ENST00000539372.5:c.413A>C | ENSP00000442059.1:p.Glu138Ala | |
| ENST00000540022.5:c.284A>C | ENSP00000438343.1:p.Glu95Ala | |
| ENST00000543048.5:c.*24A>C | ENSP00000439981.1:n.*24A>C | |
| ENST00000543995.5:c.219A>C | ENSP00000442405.1:p.Ter73Cys | |
| NM_001065.3:c.413A>C , LRG_193t1:c.413A>C | NP_001056.1:p.Glu138Ala | |
| NM_001346091.1:c.89A>C | NP_001333020.1:p.Glu30Ala | |
| NM_001346092.1:c.-165A>C | NP_001333021.1:n.-165A>C | |
| NR_144351.1:n.716A>C | ||
| NM_001065.4:c.413A>C MANE Select | NP_001056.1:p.Glu138Ala | |
| NM_001346091.2:c.89A>C | NP_001333020.1:p.Glu30Ala | |
| NM_001346092.2:c.-165A>C | NP_001333021.1:n.-165A>C | |
| NR_144351.2:n.675A>C |