Linked Data
ClinVar Variation Id:
2363379
ClinVar RCV Id:
RCV004199523
dbSNP Id:
rs769069807
ExAC:
7:44805009 C / G
gnomAD v2:
7-44805009-C-G
gnomAD v3:
7-44765410-C-G
gnomAD v4:
7-44765410-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44765410C>G , CM000669.2:g.44765410C>G | GRCh38 |
| NC_000007.13:g.44805009C>G , CM000669.1:g.44805009C>G | GRCh37 |
| NC_000007.12:g.44771534C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309315.9:c.2073C>G MANE Select | ENSP00000311778.4:p.Ile691Met | |
| ENST00000265346.11:c.1995C>G | ENSP00000265346.7:p.Ile665Met | |
| ENST00000309315.8:c.2073C>G | ENSP00000311778.4:p.Ile691Met | |
| ENST00000413916.5:c.1899C>G | ENSP00000409648.1:p.Ile633Met | |
| ENST00000433667.5:c.1977C>G | ENSP00000396601.1:p.Ile659Met | |
| ENST00000441627.5:c.2073C>G | ENSP00000414723.1:p.Ile691Met | |
| ENST00000463056.5:n.1476C>G | ||
| ENST00000478045.5:n.1794C>G | ||
| ENST00000480964.5:n.575C>G | ||
| ENST00000492558.1:n.275C>G | ||
| ENST00000615423.1:c.2082C>G | ENSP00000483853.1:p.Ile694Met | |
| NM_001300959.1:c.1899C>G | NP_001287888.1:p.Ile633Met | |
| NM_031449.3:c.2073C>G | NP_113637.3:p.Ile691Met | |
| NM_174929.2:c.1995C>G | NP_777589.2:p.Ile665Met | |
| XM_005249866.2:c.2100C>G | XP_005249923.1:p.Ile700Met | |
| XM_005249867.3:c.2100C>G | XP_005249924.1:p.Ile700Met | |
| XM_005249868.3:c.2100C>G | XP_005249925.1:p.Ile700Met | |
| XM_005249869.2:c.2073C>G | XP_005249926.1:p.Ile691Met | |
| XM_005249870.2:c.2022C>G | XP_005249927.1:p.Ile674Met | |
| XM_005249871.2:c.2004C>G | XP_005249928.1:p.Ile668Met | |
| XM_005249872.2:c.1995C>G | XP_005249929.1:p.Ile665Met | |
| XM_005249873.2:c.1977C>G | XP_005249930.1:p.Ile659Met | |
| XM_006715787.2:c.2100C>G | XP_006715850.1:p.Ile700Met | |
| XM_011515565.1:c.2100C>G | XP_011513867.1:p.Ile700Met | |
| XM_011515566.1:c.1278C>G | XP_011513868.1:p.Ile426Met | |
| XR_926948.1:n.2247C>G | ||
| XR_926949.1:n.2247C>G | ||
| XR_926950.1:n.2247C>G | ||
| XM_005249867.5:c.2100C>G | XP_005249924.1:p.Ile700Met | |
| XM_005249868.4:c.2100C>G | XP_005249925.1:p.Ile700Met | |
| XM_017012674.1:c.2100C>G | XP_016868163.1:p.Ile700Met | |
| NM_031449.4:c.2073C>G MANE Select | NP_113637.3:p.Ile691Met | |
| NM_001300959.2:c.1899C>G | NP_001287888.1:p.Ile633Met |