Linked Data
ClinVar Variation Id:
308928
dbSNP Id:
rs202002349
ExAC:
12:48383056 G / C
gnomAD v2:
12-48383056-G-C
gnomAD v3:
12-47989273-G-C
gnomAD v4:
12-47989273-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47989273G>C , CM000674.2:g.47989273G>C | GRCh38 |
| NC_000012.11:g.48383056G>C , CM000674.1:g.48383056G>C | GRCh37 |
| NC_000012.10:g.46669323G>C | NCBI36 |
| NG_008072.1:g.20230C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.870C>G | ENSP00000338213.6:p.Val290= | |
| ENST00000380518.8:c.1077C>G MANE Select | ENSP00000369889.3:p.Val359= | |
| ENST00000337299.6:c.870C>G | ENSP00000338213.6:p.Val290= | |
| ENST00000380518.7:c.1077C>G | ENSP00000369889.3:p.Val359= | |
| NM_001844.4:c.1077C>G | NP_001835.3:p.Val359= | |
| NM_033150.2:c.870C>G | NP_149162.2:p.Val290= | |
| XM_006719242.2:c.1221C>G | XP_006719305.2:p.Val407= | |
| XM_011537928.1:c.1221C>G | XP_011536230.1:p.Val407= | |
| XM_011537929.1:c.1221C>G | XP_011536231.1:p.Val407= | |
| XM_011537930.1:c.1221C>G | XP_011536232.1:p.Val407= | |
| XM_011537931.1:c.1221C>G | XP_011536233.1:p.Val407= | |
| XM_011537932.1:c.1221C>G | XP_011536234.1:p.Val407= | |
| XM_011537933.1:c.1221C>G | XP_011536235.1:p.Val407= | |
| XM_011537934.1:c.1218C>G | XP_011536236.1:p.Val406= | |
| XM_017018828.1:c.1221C>G | XP_016874317.1:p.Val407= | |
| XM_017018829.1:c.1218C>G | XP_016874318.1:p.Val406= | |
| XM_017018830.1:c.1011C>G | XP_016874319.1:p.Val337= | |
| XM_017018831.2:c.531C>G | XP_016874320.1:p.Val177= | |
| NM_001844.5:c.1077C>G MANE Select | NP_001835.3:p.Val359= | |
| NM_033150.3:c.870C>G | NP_149162.2:p.Val290= |