Linked Data
ClinVar Variation Id:
196889
dbSNP Id:
rs371835359
ExAC:
12:48376300 C / T
gnomAD v2:
12-48376300-C-T
gnomAD v3:
12-47982517-C-T
gnomAD v4:
12-47982517-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47982517C>T , CM000674.2:g.47982517C>T | GRCh38 |
| NC_000012.11:g.48376300C>T , CM000674.1:g.48376300C>T | GRCh37 |
| NC_000012.10:g.46662567C>T | NCBI36 |
| NG_008072.1:g.26986G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.2079G>A | ENSP00000338213.6:p.Gly693= | |
| ENST00000380518.8:c.2286G>A MANE Select | ENSP00000369889.3:p.Gly762= | |
| ENST00000337299.6:c.2079G>A | ENSP00000338213.6:p.Gly693= | |
| ENST00000380518.7:c.2286G>A | ENSP00000369889.3:p.Gly762= | |
| ENST00000483376.1:n.464G>A | ||
| ENST00000493991.5:n.1210G>A | ||
| NM_001844.4:c.2286G>A | NP_001835.3:p.Gly762= | |
| NM_033150.2:c.2079G>A | NP_149162.2:p.Gly693= | |
| XM_006719242.2:c.2430G>A | XP_006719305.2:p.Gly810= | |
| XM_011537928.1:c.2430G>A | XP_011536230.1:p.Gly810= | |
| XM_011537929.1:c.2430G>A | XP_011536231.1:p.Gly810= | |
| XM_011537930.1:c.2430G>A | XP_011536232.1:p.Gly810= | |
| XM_011537931.1:c.2430G>A | XP_011536233.1:p.Gly810= | |
| XM_011537932.1:c.2430G>A | XP_011536234.1:p.Gly810= | |
| XM_011537933.1:c.2430G>A | XP_011536235.1:p.Gly810= | |
| XM_011537934.1:c.2427G>A | XP_011536236.1:p.Gly809= | |
| XM_011537935.1:c.1374G>A | XP_011536237.1:p.Gly458= | |
| XR_944910.1:n.268+43C>T | ||
| XM_017018828.1:c.2430G>A | XP_016874317.1:p.Gly810= | |
| XM_017018829.1:c.2427G>A | XP_016874318.1:p.Gly809= | |
| XM_017018830.1:c.2220G>A | XP_016874319.1:p.Gly740= | |
| XM_017018831.2:c.1740G>A | XP_016874320.1:p.Gly580= | |
| NM_001844.5:c.2286G>A MANE Select | NP_001835.3:p.Gly762= | |
| NM_033150.3:c.2079G>A | NP_149162.2:p.Gly693= |