Linked Data
ClinVar Variation Id:
94260
dbSNP Id:
rs199547661
ExAC:
12:49432365 G / A
gnomAD v2:
12-49432365-G-A
gnomAD v3:
12-49038582-G-A
gnomAD v4:
12-49038582-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49038582G>A , CM000674.2:g.49038582G>A | GRCh38 |
| NC_000012.11:g.49432365G>A , CM000674.1:g.49432365G>A | GRCh37 |
| NC_000012.10:g.47718632G>A | NCBI36 |
| NG_027827.1:g.21743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683043.1:n.473C>T | ||
| ENST00000683543.2:c.8774C>T | ENSP00000506726.1:p.Ala2925Val | |
| ENST00000685166.1:c.8783C>T | ENSP00000509386.1:p.Ala2928Val | |
| ENST00000687201.1:c.338C>T | ENSP00000510037.1:p.Ala113Val | |
| ENST00000689143.1:c.2377C>T | ENSP00000509839.1:n.2377C>T | |
| ENST00000692637.1:c.8771C>T | ENSP00000509666.1:p.Ala2924Val | |
| ENST00000692841.1:c.338C>T | ENSP00000508711.1:p.Ala113Val | |
| ENST00000301067.12:c.8774C>T MANE Select | ENSP00000301067.7:p.Ala2925Val | |
| ENST00000301067.11:c.8774C>T | ENSP00000301067.7:p.Ala2925Val | |
| ENST00000549799.1:n.416C>T | ||
| NM_003482.3:c.8774C>T | NP_003473.3:p.Ala2925Val | |
| XM_005269162.3:c.8774C>T | XP_005269219.1:p.Ala2925Val | |
| XM_006719614.2:c.8783C>T | XP_006719677.1:p.Ala2928Val | |
| XM_006719616.2:c.8771C>T | XP_006719679.1:p.Ala2924Val | |
| XM_011538770.1:c.8783C>T | XP_011537072.1:p.Ala2928Val | |
| XM_011538771.1:c.8780C>T | XP_011537073.1:p.Ala2927Val | |
| XM_011538772.1:c.8774C>T | XP_011537074.1:p.Ala2925Val | |
| XM_011538773.1:c.8771C>T | XP_011537075.1:p.Ala2924Val | |
| XM_011538774.1:c.8762C>T | XP_011537076.1:p.Ala2921Val | |
| XM_011538775.1:c.8783C>T | XP_011537077.1:p.Ala2928Val | |
| XM_011538776.1:c.8690C>T | XP_011537078.1:p.Ala2897Val | |
| XR_944740.1:n.11103C>T | ||
| XM_005269162.4:c.8774C>T | XP_005269219.1:p.Ala2925Val | |
| XM_006719614.4:c.8783C>T | XP_006719677.1:p.Ala2928Val | |
| XM_006719616.3:c.8771C>T | XP_006719679.1:p.Ala2924Val | |
| XM_011538770.2:c.8783C>T | XP_011537072.1:p.Ala2928Val | |
| XM_011538771.2:c.8780C>T | XP_011537073.1:p.Ala2927Val | |
| XM_011538772.2:c.8774C>T | XP_011537074.1:p.Ala2925Val | |
| XM_011538773.2:c.8771C>T | XP_011537075.1:p.Ala2924Val | |
| XM_011538774.2:c.8762C>T | XP_011537076.1:p.Ala2921Val | |
| XM_011538776.2:c.8690C>T | XP_011537078.1:p.Ala2897Val | |
| XR_001748874.1:n.10092C>T | ||
| NM_003482.4:c.8774C>T MANE Select | NP_003473.3:p.Ala2925Val |