Linked Data
ClinVar Variation Id:
1368440
ClinVar RCV Id:
RCV001874410
dbSNP Id:
rs2136814138
gnomAD v4:
12-6329810-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6329810T>C , CM000674.2:g.6329810T>C | GRCh38 |
| NC_000012.11:g.6438976T>C , CM000674.1:g.6438976T>C | GRCh37 |
| NC_000012.10:g.6309237T>C | NCBI36 |
| NG_007506.1:g.17286A>G , LRG_193:g.17286A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.2126A>G | ||
| ENST00000437813.8:c.*486A>G | ENSP00000513672.1:n.*486A>G | |
| ENST00000440083.7:c.1244A>G | ENSP00000413224.3:p.Glu415Gly | |
| ENST00000535958.2:c.*852A>G | ENSP00000513673.1:n.*852A>G | |
| ENST00000698337.1:n.986A>G | ||
| ENST00000698338.1:n.1639A>G | ||
| ENST00000698339.1:c.*520A>G | ENSP00000513670.1:n.*520A>G | |
| ENST00000698340.1:c.*264A>G | ENSP00000513671.1:n.*264A>G | |
| ENST00000162749.7:c.1025A>G MANE Select | ENSP00000162749.2:p.Glu342Gly | |
| ENST00000162749.6:c.1025A>G | ENSP00000162749.2:p.Glu342Gly | |
| ENST00000534885.5:c.*502A>G | ENSP00000441803.1:n.*502A>G | |
| ENST00000536717.5:n.929A>G | ||
| ENST00000540022.5:c.896A>G | ENSP00000438343.1:p.Glu299Gly | |
| ENST00000543359.5:n.437A>G | ||
| ENST00000543995.5:c.*612A>G | ENSP00000442405.1:n.*612A>G | |
| NM_001065.3:c.1025A>G , LRG_193t1:c.1025A>G | NP_001056.1:p.Glu342Gly | |
| NM_001346091.1:c.701A>G | NP_001333020.1:p.Glu234Gly | |
| NM_001346092.1:c.566A>G | NP_001333021.1:p.Glu189Gly | |
| NR_144351.1:n.1254A>G | ||
| NM_001065.4:c.1025A>G MANE Select | NP_001056.1:p.Glu342Gly | |
| NM_001346091.2:c.701A>G | NP_001333020.1:p.Glu234Gly | |
| NM_001346092.2:c.566A>G | NP_001333021.1:p.Glu189Gly | |
| NR_144351.2:n.1213A>G |