Linked Data
ClinVar Variation Id:
94155
dbSNP Id:
rs398123710
ExAC:
12:49426316 T / C
gnomAD v2:
12-49426316-T-C
gnomAD v3:
12-49032533-T-C
gnomAD v4:
12-49032533-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49032533T>C , CM000674.2:g.49032533T>C | GRCh38 |
| NC_000012.11:g.49426316T>C , CM000674.1:g.49426316T>C | GRCh37 |
| NC_000012.10:g.47712583T>C | NCBI36 |
| NG_027827.1:g.27792A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.12172A>G | ENSP00000506726.1:p.Met4058Val | |
| ENST00000685166.1:c.12181A>G | ENSP00000509386.1:p.Met4061Val | |
| ENST00000685554.1:c.1732A>G | ENSP00000508640.1:p.Met578Val | |
| ENST00000687201.1:c.3751A>G | ENSP00000510037.1:p.Met1251Val | |
| ENST00000692637.1:c.12169A>G | ENSP00000509666.1:p.Met4057Val | |
| ENST00000692841.1:c.3651A>G | ENSP00000508711.1:n.3651A>G | |
| ENST00000301067.12:c.12172A>G MANE Select | ENSP00000301067.7:p.Met4058Val | |
| ENST00000301067.11:c.12172A>G | ENSP00000301067.7:p.Met4058Val | |
| NM_003482.3:c.12172A>G | NP_003473.3:p.Met4058Val | |
| XM_005269162.3:c.12172A>G | XP_005269219.1:p.Met4058Val | |
| XM_006719614.2:c.12181A>G | XP_006719677.1:p.Met4061Val | |
| XM_006719616.2:c.12169A>G | XP_006719679.1:p.Met4057Val | |
| XM_011538770.1:c.12181A>G | XP_011537072.1:p.Met4061Val | |
| XM_011538771.1:c.12178A>G | XP_011537073.1:p.Met4060Val | |
| XM_011538772.1:c.12172A>G | XP_011537074.1:p.Met4058Val | |
| XM_011538773.1:c.12169A>G | XP_011537075.1:p.Met4057Val | |
| XM_011538774.1:c.12160A>G | XP_011537076.1:p.Met4054Val | |
| XM_011538775.1:c.12181A>G | XP_011537077.1:p.Met4061Val | |
| XM_011538776.1:c.12088A>G | XP_011537078.1:p.Met4030Val | |
| XR_944740.1:n.14501A>G | ||
| XM_005269162.4:c.12172A>G | XP_005269219.1:p.Met4058Val | |
| XM_006719614.4:c.12181A>G | XP_006719677.1:p.Met4061Val | |
| XM_006719616.3:c.12169A>G | XP_006719679.1:p.Met4057Val | |
| XM_011538770.2:c.12181A>G | XP_011537072.1:p.Met4061Val | |
| XM_011538771.2:c.12178A>G | XP_011537073.1:p.Met4060Val | |
| XM_011538772.2:c.12172A>G | XP_011537074.1:p.Met4058Val | |
| XM_011538773.2:c.12169A>G | XP_011537075.1:p.Met4057Val | |
| XM_011538774.2:c.12160A>G | XP_011537076.1:p.Met4054Val | |
| XM_011538776.2:c.12088A>G | XP_011537078.1:p.Met4030Val | |
| XR_001748874.1:n.13490A>G | ||
| NM_003482.4:c.12172A>G MANE Select | NP_003473.3:p.Met4058Val |