Linked Data
ClinVar Variation Id:
1413586
ClinVar RCV Id:
RCV001928158
dbSNP Id:
rs192800556
ExAC:
18:42533280 T / A
gnomAD v2:
18-42533280-T-A
gnomAD v3:
18-44953315-T-A
gnomAD v4:
18-44953315-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.44953315T>A , CM000680.2:g.44953315T>A | GRCh38 |
| NC_000018.9:g.42533280T>A , CM000680.1:g.42533280T>A | GRCh37 |
| NC_000018.8:g.40787278T>A | NCBI36 |
| NG_027527.1:g.278143T>A | |
| NG_027527.2:g.278143T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649279.2:c.3975T>A MANE Select | ENSP00000497406.1:p.Ser1325Arg | |
| ENST00000677068.1:c.3975T>A | ENSP00000504398.1:p.Ser1325Arg | |
| ENST00000677077.1:c.3975T>A | ENSP00000503656.1:p.Ser1325Arg | |
| ENST00000677130.1:c.3975T>A | ENSP00000503094.1:p.Ser1325Arg | |
| ENST00000677699.1:c.3975T>A | ENSP00000503964.1:p.Ser1325Arg | |
| ENST00000678152.1:c.3975T>A | ENSP00000502995.1:p.Ser1325Arg | |
| ENST00000282030.5:c.3975T>A | ENSP00000282030.5:p.Ser1325Arg | |
| NM_015559.2:c.3975T>A | NP_056374.2:p.Ser1325Arg | |
| XM_005258243.3:c.3975T>A | XP_005258300.1:p.Ser1325Arg | |
| NM_015559.3:c.3975T>A MANE Select | NP_056374.2:p.Ser1325Arg | |
| XM_024451149.1:c.4053T>A | XP_024306917.1:p.Ser1351Arg | |
| XM_024451150.1:c.4053T>A | XP_024306918.1:p.Ser1351Arg | |
| XM_024451151.1:c.4053T>A | XP_024306919.1:p.Ser1351Arg | |
| XM_024451152.1:c.4053T>A | XP_024306920.1:p.Ser1351Arg | |
| XM_024451153.1:c.3975T>A | XP_024306921.1:p.Ser1325Arg | |
| XM_024451154.1:c.3975T>A | XP_024306922.1:p.Ser1325Arg | |
| XM_024451155.1:c.3975T>A | XP_024306923.1:p.Ser1325Arg | |
| XM_024451156.1:c.4053T>A | XP_024306924.1:p.Ser1351Arg | |
| XM_024451157.1:c.3498T>A | XP_024306925.1:p.Ser1166Arg | |
| XM_024451158.1:c.4053T>A | XP_024306926.1:p.Ser1351Arg | |
| NM_001379141.1:c.3975T>A | NP_001366070.1:p.Ser1325Arg | |
| NM_001379142.1:c.3975T>A | NP_001366071.1:p.Ser1325Arg |