Linked Data
ClinVar Variation Id:
450261
dbSNP Id:
rs201062001
ExAC:
12:6438518 C / A
gnomAD v2:
12-6438518-C-A
gnomAD v3:
12-6329352-C-A
gnomAD v4:
12-6329352-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6329352C>A , CM000674.2:g.6329352C>A | GRCh38 |
| NC_000012.11:g.6438518C>A , CM000674.1:g.6438518C>A | GRCh37 |
| NC_000012.10:g.6308779C>A | NCBI36 |
| NG_007506.1:g.17744G>T , LRG_193:g.17744G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.2429G>T | ||
| ENST00000437813.8:c.*789G>T | ENSP00000513672.1:n.*789G>T | |
| ENST00000440083.7:c.1547G>T | ENSP00000413224.3:p.Gly516Val | |
| ENST00000535958.2:c.*1155G>T | ENSP00000513673.1:n.*1155G>T | |
| ENST00000698337.1:n.1289G>T | ||
| ENST00000698338.1:n.1942G>T | ||
| ENST00000698339.1:c.*823G>T | ENSP00000513670.1:n.*823G>T | |
| ENST00000698340.1:c.*567G>T | ENSP00000513671.1:n.*567G>T | |
| ENST00000162749.7:c.1328G>T MANE Select | ENSP00000162749.2:p.Gly443Val | |
| ENST00000162749.6:c.1328G>T | ENSP00000162749.2:p.Gly443Val | |
| ENST00000534885.5:c.*805G>T | ENSP00000441803.1:n.*805G>T | |
| ENST00000536717.5:n.1232G>T | ||
| ENST00000540022.5:c.1199G>T | ENSP00000438343.1:p.Gly400Val | |
| ENST00000543995.5:c.*915G>T | ENSP00000442405.1:n.*915G>T | |
| NM_001065.3:c.1328G>T , LRG_193t1:c.1328G>T | NP_001056.1:p.Gly443Val | |
| NM_001346091.1:c.1004G>T | NP_001333020.1:p.Gly335Val | |
| NM_001346092.1:c.869G>T | NP_001333021.1:p.Gly290Val | |
| NR_144351.1:n.1557G>T | ||
| NM_001065.4:c.1328G>T MANE Select | NP_001056.1:p.Gly443Val | |
| NM_001346091.2:c.1004G>T | NP_001333020.1:p.Gly335Val | |
| NM_001346092.2:c.869G>T | NP_001333021.1:p.Gly290Val | |
| NR_144351.2:n.1516G>T |