Linked Data
ClinVar Variation Id:
159867
dbSNP Id:
rs8091231
ExAC:
18:42530475 C / T
gnomAD v2:
18-42530475-C-T
gnomAD v3:
18-44950510-C-T
gnomAD v4:
18-44950510-C-T
COSMIC:
COSM4072232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.44950510C>T , CM000680.2:g.44950510C>T | GRCh38 |
| NC_000018.9:g.42530475C>T , CM000680.1:g.42530475C>T | GRCh37 |
| NC_000018.8:g.40784473C>T | NCBI36 |
| NG_027527.1:g.275338C>T | |
| NG_027527.2:g.275338C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649279.2:c.1170C>T MANE Select | ENSP00000497406.1:p.Ala390= | |
| ENST00000677068.1:c.1170C>T | ENSP00000504398.1:p.Ala390= | |
| ENST00000677077.1:c.1170C>T | ENSP00000503656.1:p.Ala390= | |
| ENST00000677130.1:c.1170C>T | ENSP00000503094.1:p.Ala390= | |
| ENST00000677699.1:c.1170C>T | ENSP00000503964.1:p.Ala390= | |
| ENST00000678152.1:c.1170C>T | ENSP00000502995.1:p.Ala390= | |
| ENST00000282030.5:c.1170C>T | ENSP00000282030.5:p.Ala390= | |
| NM_015559.2:c.1170C>T | NP_056374.2:p.Ala390= | |
| XM_005258243.3:c.1170C>T | XP_005258300.1:p.Ala390= | |
| NM_015559.3:c.1170C>T MANE Select | NP_056374.2:p.Ala390= | |
| XM_024451149.1:c.1248C>T | XP_024306917.1:p.Ala416= | |
| XM_024451150.1:c.1248C>T | XP_024306918.1:p.Ala416= | |
| XM_024451151.1:c.1248C>T | XP_024306919.1:p.Ala416= | |
| XM_024451152.1:c.1248C>T | XP_024306920.1:p.Ala416= | |
| XM_024451153.1:c.1170C>T | XP_024306921.1:p.Ala390= | |
| XM_024451154.1:c.1170C>T | XP_024306922.1:p.Ala390= | |
| XM_024451155.1:c.1170C>T | XP_024306923.1:p.Ala390= | |
| XM_024451156.1:c.1248C>T | XP_024306924.1:p.Ala416= | |
| XM_024451157.1:c.693C>T | XP_024306925.1:p.Ala231= | |
| XM_024451158.1:c.1248C>T | XP_024306926.1:p.Ala416= | |
| NM_001379141.1:c.1170C>T | NP_001366070.1:p.Ala390= | |
| NM_001379142.1:c.1170C>T | NP_001366071.1:p.Ala390= |