Linked Data
ClinVar Variation Id:
514175
dbSNP Id:
rs200354953
ExAC:
4:126328151 C / G
gnomAD v2:
4-126328151-C-G
gnomAD v3:
4-125406996-C-G
gnomAD v4:
4-125406996-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125406996C>G , CM000666.2:g.125406996C>G | GRCh38 |
| NC_000004.11:g.126328151C>G , CM000666.1:g.126328151C>G | GRCh37 |
| NC_000004.10:g.126547601C>G | NCBI36 |
| NG_033865.1:g.95585C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394329.9:c.5424C>G MANE Select | ENSP00000377862.4:p.Ser1808= | |
| ENST00000674496.2:c.195C>G | ENSP00000501473.2:p.Ser65= | |
| ENST00000335110.5:c.318C>G | ENSP00000335169.5:p.Ser106= | |
| ENST00000394329.7:c.5424C>G | ENSP00000377862.3:p.Ser1808= | |
| NM_001291285.1:c.5424C>G | NP_001278214.1:p.Ser1808= | |
| NM_001291303.1:c.5424C>G | NP_001278232.1:p.Ser1808= | |
| NM_024582.4:c.5424C>G | NP_078858.4:p.Ser1808= | |
| XM_011532236.1:c.5424C>G | XP_011530538.1:p.Ser1808= | |
| XM_011532237.1:c.195C>G | XP_011530539.1:p.Ser65= | |
| XM_011532236.2:c.5424C>G | XP_011530538.1:p.Ser1808= | |
| XM_011532237.2:c.195C>G | XP_011530539.1:p.Ser65= | |
| NM_001291285.2:c.5424C>G | NP_001278214.1:p.Ser1808= | |
| NM_001291303.3:c.5424C>G MANE Select | NP_001278232.1:p.Ser1808= | |
| NM_024582.5:c.5424C>G | NP_078858.4:p.Ser1808= | |
| NM_001291285.3:c.5424C>G | NP_001278214.1:p.Ser1808= | |
| NM_024582.6:c.5424C>G | NP_078858.4:p.Ser1808= |