Linked Data
ClinVar Variation Id:
258238
dbSNP Id:
rs2070739
ExAC:
12:48367976 C / T
gnomAD v2:
12-48367976-C-T
gnomAD v3:
12-47974193-C-T
gnomAD v4:
12-47974193-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47974193C>T , CM000674.2:g.47974193C>T | GRCh38 |
| NC_000012.11:g.48367976C>T , CM000674.1:g.48367976C>T | GRCh37 |
| NC_000012.10:g.46654243C>T | NCBI36 |
| NG_008072.1:g.35310G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.4006G>A | ENSP00000338213.6:p.Gly1336Ser | |
| ENST00000380518.8:c.4213G>A MANE Select | ENSP00000369889.3:p.Gly1405Ser | |
| ENST00000337299.6:c.4006G>A | ENSP00000338213.6:p.Gly1336Ser | |
| ENST00000380518.7:c.4213G>A | ENSP00000369889.3:p.Gly1405Ser | |
| ENST00000493991.5:n.3299G>A | ||
| NM_001844.4:c.4213G>A | NP_001835.3:p.Gly1405Ser | |
| NM_033150.2:c.4006G>A | NP_149162.2:p.Gly1336Ser | |
| XM_006719242.2:c.4357G>A | XP_006719305.2:p.Gly1453Ser | |
| XM_011537928.1:c.4357G>A | XP_011536230.1:p.Gly1453Ser | |
| XM_011537929.1:c.4357G>A | XP_011536231.1:p.Gly1453Ser | |
| XM_011537930.1:c.4357G>A | XP_011536232.1:p.Gly1453Ser | |
| XM_011537931.1:c.4357G>A | XP_011536233.1:p.Gly1453Ser | |
| XM_011537932.1:c.4357G>A | XP_011536234.1:p.Gly1453Ser | |
| XM_011537933.1:c.4357G>A | XP_011536235.1:p.Gly1453Ser | |
| XM_011537934.1:c.4354G>A | XP_011536236.1:p.Gly1452Ser | |
| XM_011537935.1:c.3301G>A | XP_011536237.1:p.Gly1101Ser | |
| XM_017018828.1:c.4357G>A | XP_016874317.1:p.Gly1453Ser | |
| XM_017018829.1:c.4354G>A | XP_016874318.1:p.Gly1452Ser | |
| XM_017018830.1:c.4147G>A | XP_016874319.1:p.Gly1383Ser | |
| XM_017018831.2:c.3667G>A | XP_016874320.1:p.Gly1223Ser | |
| NM_001844.5:c.4213G>A MANE Select | NP_001835.3:p.Gly1405Ser | |
| NM_033150.3:c.4006G>A | NP_149162.2:p.Gly1336Ser |