Linked Data
ClinVar Variation Id:
425151
ClinVar RCV Id:
RCV000488064
dbSNP Id:
rs371516078
gnomAD v2:
18-42281455-C-G
gnomAD v3:
18-44701490-C-G
gnomAD v4:
18-44701490-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.44701490C>G , CM000680.2:g.44701490C>G | GRCh38 |
| NC_000018.9:g.42281455C>G , CM000680.1:g.42281455C>G | GRCh37 |
| NC_000018.8:g.40535453C>G | NCBI36 |
| NG_027527.1:g.26318C>G | |
| NG_027527.2:g.26318C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645568.1:c.144C>G | ENSP00000496513.1:p.Ile48Met | |
| ENST00000649279.2:c.144C>G MANE Select | ENSP00000497406.1:p.Ile48Met | |
| ENST00000677068.1:c.144C>G | ENSP00000504398.1:p.Ile48Met | |
| ENST00000677077.1:c.144C>G | ENSP00000503656.1:p.Ile48Met | |
| ENST00000677130.1:c.144C>G | ENSP00000503094.1:p.Ile48Met | |
| ENST00000677699.1:c.144C>G | ENSP00000503964.1:p.Ile48Met | |
| ENST00000678152.1:c.144C>G | ENSP00000502995.1:p.Ile48Met | |
| ENST00000282030.5:c.144C>G | ENSP00000282030.5:p.Ile48Met | |
| ENST00000426838.8:c.144C>G | ENSP00000390687.3:p.Ile48Met | |
| ENST00000591940.1:c.144C>G | ENSP00000468506.1:p.Ile48Met | |
| NM_001130110.1:c.144C>G | NP_001123582.1:p.Ile48Met | |
| NM_015559.2:c.144C>G | NP_056374.2:p.Ile48Met | |
| XM_005258243.3:c.144C>G | XP_005258300.1:p.Ile48Met | |
| NM_015559.3:c.144C>G MANE Select | NP_056374.2:p.Ile48Met | |
| XM_024451149.1:c.144C>G | XP_024306917.1:p.Ile48Met | |
| XM_024451150.1:c.144C>G | XP_024306918.1:p.Ile48Met | |
| XM_024451151.1:c.144C>G | XP_024306919.1:p.Ile48Met | |
| XM_024451152.1:c.144C>G | XP_024306920.1:p.Ile48Met | |
| XM_024451153.1:c.144C>G | XP_024306921.1:p.Ile48Met | |
| XM_024451154.1:c.144C>G | XP_024306922.1:p.Ile48Met | |
| XM_024451155.1:c.144C>G | XP_024306923.1:p.Ile48Met | |
| XM_024451156.1:c.144C>G | XP_024306924.1:p.Ile48Met | |
| XM_024451158.1:c.144C>G | XP_024306926.1:p.Ile48Met | |
| NM_001130110.2:c.144C>G | NP_001123582.1:p.Ile48Met | |
| NM_001379141.1:c.144C>G | NP_001366070.1:p.Ile48Met | |
| NM_001379142.1:c.144C>G | NP_001366071.1:p.Ile48Met |