Linked Data
ClinVar Variation Id:
310134
dbSNP Id:
rs72657550
ExAC:
12:6457963 C / G
gnomAD v2:
12-6457963-C-G
gnomAD v3:
12-6348797-C-G
gnomAD v4:
12-6348797-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6348797C>G , CM000674.2:g.6348797C>G | GRCh38 |
| NC_000012.11:g.6457963C>G , CM000674.1:g.6457963C>G | GRCh37 |
| NC_000012.10:g.6328224C>G | NCBI36 |
| NG_011945.1:g.33561G>C | |
| NG_011945.2:g.33561G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.1559G>C MANE Select | ENSP00000228916.2:p.Gly520Ala | |
| ENST00000228916.6:c.1559G>C | ENSP00000228916.2:p.Gly520Ala | |
| ENST00000338748.9:c.*630G>C | ENSP00000345028.5:n.*630G>C | |
| ENST00000360168.7:c.1736G>C | ENSP00000353292.3:p.Gly579Ala | |
| ENST00000396966.6:c.1501G>C | ENSP00000380166.2:p.Glu501Gln | |
| ENST00000539953.1:n.160G>C | ||
| ENST00000540037.5:c.659G>C | ENSP00000440876.1:p.Gly220Ala | |
| ENST00000543768.1:c.1628G>C | ENSP00000438739.1:p.Gly543Ala | |
| NM_001038.5:c.1559G>C | NP_001029.1:p.Gly520Ala | |
| NM_001159575.1:c.1628G>C | NP_001153047.1:p.Gly543Ala | |
| NM_001159576.1:c.1736G>C | NP_001153048.1:p.Gly579Ala | |
| XR_001748982.1:n.87+530C>G | ||
| XR_001748983.1:n.87+530C>G | ||
| XR_001748984.1:n.87+530C>G | ||
| NM_001038.6:c.1559G>C MANE Select | NP_001029.1:p.Gly520Ala | |
| NM_001159576.2:c.1736G>C | NP_001153048.1:p.Gly579Ala | |
| NM_001159575.2:c.1628G>C | NP_001153047.1:p.Gly543Ala |