Linked Data
ClinVar Variation Id:
335119
dbSNP Id:
rs886055807
gnomAD v2:
2-238274533-C-A
gnomAD v4:
2-237365890-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237365890C>A , CM000664.2:g.237365890C>A | GRCh38 |
| NC_000002.11:g.238274533C>A , CM000664.1:g.238274533C>A | GRCh37 |
| NC_000002.10:g.237939272C>A | NCBI36 |
| NG_008676.1:g.53318G>T , LRG_473:g.53318G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.5028G>T | ENSP00000315873.4:p.Ser1676= | |
| ENST00000295550.9:c.5646G>T MANE Select | ENSP00000295550.4:p.Ser1882= | |
| ENST00000295550.8:c.5646G>T | ENSP00000295550.4:p.Ser1882= | |
| ENST00000347401.7:c.3825G>T | ENSP00000315609.4:p.Ser1275= | |
| ENST00000353578.8:c.5028G>T | ENSP00000315873.4:p.Ser1676= | |
| ENST00000409809.5:c.5028G>T | ENSP00000386844.1:p.Ser1676= | |
| ENST00000472056.5:c.3825G>T | ENSP00000418285.1:p.Ser1275= | |
| NM_004369.3:c.5646G>T , LRG_473t1:c.5646G>T | NP_004360.2:p.Ser1882= | |
| NM_057166.4:c.3825G>T | NP_476507.3:p.Ser1275= | |
| NM_057167.3:c.5028G>T | NP_476508.2:p.Ser1676= | |
| XM_005246065.1:c.5046G>T | XP_005246122.1:p.Ser1682= | |
| XM_005246066.1:c.4425G>T | XP_005246123.1:p.Ser1475= | |
| XM_006712253.1:c.5145G>T | XP_006712316.1:p.Ser1715= | |
| XM_011510574.1:c.5643G>T | XP_011508876.1:p.Ser1881= | |
| XM_011510575.1:c.3240G>T | XP_011508877.1:p.Ser1080= | |
| XM_017003304.1:c.3240G>T | XP_016858793.1:p.Ser1080= | |
| XM_024452684.1:c.4425G>T | XP_024308452.1:p.Ser1475= | |
| NM_004369.4:c.5646G>T MANE Select | NP_004360.2:p.Ser1882= | |
| NM_057166.5:c.3825G>T | NP_476507.3:p.Ser1275= | |
| NM_057167.4:c.5028G>T | NP_476508.2:p.Ser1676= |