Linked Data
ClinVar Variation Id:
1115556
ClinVar RCV Id:
RCV001443632
dbSNP Id:
rs367745041
ExAC:
4:25146477 T / C
gnomAD v2:
4-25146477-T-C
gnomAD v3:
4-25144855-T-C
gnomAD v4:
4-25144855-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25144855T>C , CM000666.2:g.25144855T>C | GRCh38 |
| NC_000004.11:g.25146477T>C , CM000666.1:g.25146477T>C | GRCh37 |
| NC_000004.10:g.24755575T>C | NCBI36 |
| NG_028222.1:g.20728A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.945A>G MANE Select | ENSP00000371535.2:p.Ser315= | |
| ENST00000680581.1:c.945A>G | ENSP00000506483.1:p.Ser315= | |
| ENST00000680824.1:n.2161A>G | ||
| ENST00000681071.1:n.1237A>G | ||
| ENST00000681341.1:n.2086A>G | ||
| ENST00000681948.1:c.1200A>G | ENSP00000505991.1:p.Ser400= | |
| ENST00000358971.7:c.*743A>G | ENSP00000351857.3:n.*743A>G | |
| ENST00000382103.6:c.945A>G | ENSP00000371535.2:p.Ser315= | |
| ENST00000503150.1:c.227A>G | ||
| ENST00000505513.1:n.245A>G | ||
| ENST00000514585.5:c.*646A>G | ENSP00000421880.1:n.*646A>G | |
| NM_016955.3:c.945A>G | NP_058651.3:p.Ser315= | |
| XM_005248168.2:c.708A>G | XP_005248225.1:p.Ser236= | |
| XM_006713965.2:c.765A>G | XP_006714028.1:p.Ser255= | |
| XM_011513846.1:c.942A>G | XP_011512148.1:p.Ser314= | |
| XM_011513847.1:c.912A>G | XP_011512149.1:p.Ser304= | |
| XM_011513848.1:c.765A>G | XP_011512150.1:p.Ser255= | |
| XM_011513846.2:c.942A>G | XP_011512148.1:p.Ser314= | |
| XM_011513847.2:c.912A>G | XP_011512149.1:p.Ser304= | |
| XM_017008277.1:c.1200A>G | XP_016863766.1:p.Ser400= | |
| XM_017008278.1:c.522A>G | XP_016863767.1:p.Ser174= | |
| NM_016955.4:c.945A>G MANE Select | NP_058651.3:p.Ser315= |