Linked Data
ClinVar Variation Id:
134709
dbSNP Id:
rs199831827
ExAC:
12:49431657 A / G
gnomAD v2:
12-49431657-A-G
gnomAD v3:
12-49037874-A-G
gnomAD v4:
12-49037874-A-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49037874A>G , CM000674.2:g.49037874A>G | GRCh38 |
| NC_000012.11:g.49431657A>G , CM000674.1:g.49431657A>G | GRCh37 |
| NC_000012.10:g.47717924A>G | NCBI36 |
| NG_027827.1:g.22451T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683043.1:n.1181T>C | ||
| ENST00000683543.2:c.9482T>C | ENSP00000506726.1:p.Met3161Thr | |
| ENST00000685166.1:c.9491T>C | ENSP00000509386.1:p.Met3164Thr | |
| ENST00000687201.1:c.1046T>C | ENSP00000510037.1:p.Met349Thr | |
| ENST00000689143.1:c.3085T>C | ENSP00000509839.1:n.3085T>C | |
| ENST00000692637.1:c.9479T>C | ENSP00000509666.1:p.Met3160Thr | |
| ENST00000692841.1:c.1046T>C | ENSP00000508711.1:p.Met349Thr | |
| ENST00000301067.12:c.9482T>C MANE Select | ENSP00000301067.7:p.Met3161Thr | |
| ENST00000301067.11:c.9482T>C | ENSP00000301067.7:p.Met3161Thr | |
| NM_003482.3:c.9482T>C | NP_003473.3:p.Met3161Thr | |
| XM_005269162.3:c.9482T>C | XP_005269219.1:p.Met3161Thr | |
| XM_006719614.2:c.9491T>C | XP_006719677.1:p.Met3164Thr | |
| XM_006719616.2:c.9479T>C | XP_006719679.1:p.Met3160Thr | |
| XM_011538770.1:c.9491T>C | XP_011537072.1:p.Met3164Thr | |
| XM_011538771.1:c.9488T>C | XP_011537073.1:p.Met3163Thr | |
| XM_011538772.1:c.9482T>C | XP_011537074.1:p.Met3161Thr | |
| XM_011538773.1:c.9479T>C | XP_011537075.1:p.Met3160Thr | |
| XM_011538774.1:c.9470T>C | XP_011537076.1:p.Met3157Thr | |
| XM_011538775.1:c.9491T>C | XP_011537077.1:p.Met3164Thr | |
| XM_011538776.1:c.9398T>C | XP_011537078.1:p.Met3133Thr | |
| XR_944740.1:n.11811T>C | ||
| XM_005269162.4:c.9482T>C | XP_005269219.1:p.Met3161Thr | |
| XM_006719614.4:c.9491T>C | XP_006719677.1:p.Met3164Thr | |
| XM_006719616.3:c.9479T>C | XP_006719679.1:p.Met3160Thr | |
| XM_011538770.2:c.9491T>C | XP_011537072.1:p.Met3164Thr | |
| XM_011538771.2:c.9488T>C | XP_011537073.1:p.Met3163Thr | |
| XM_011538772.2:c.9482T>C | XP_011537074.1:p.Met3161Thr | |
| XM_011538773.2:c.9479T>C | XP_011537075.1:p.Met3160Thr | |
| XM_011538774.2:c.9470T>C | XP_011537076.1:p.Met3157Thr | |
| XM_011538776.2:c.9398T>C | XP_011537078.1:p.Met3133Thr | |
| XR_001748874.1:n.10800T>C | ||
| NM_003482.4:c.9482T>C MANE Select | NP_003473.3:p.Met3161Thr |