Linked Data
ClinVar Variation Id:
158777
dbSNP Id:
rs587783724
ExAC:
12:49434913 C / T
gnomAD v2:
12-49434913-C-T
gnomAD v3:
12-49041130-C-T
gnomAD v4:
12-49041130-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49041130C>T , CM000674.2:g.49041130C>T | GRCh38 |
| NC_000012.11:g.49434913C>T , CM000674.1:g.49434913C>T | GRCh37 |
| NC_000012.10:g.47721180C>T | NCBI36 |
| NG_027827.1:g.19195G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.6640G>A | ENSP00000506726.1:p.Ala2214Thr | |
| ENST00000685166.1:c.6649G>A | ENSP00000509386.1:p.Ala2217Thr | |
| ENST00000689060.1:c.659G>A | ||
| ENST00000689143.1:c.313G>A | ENSP00000509839.1:p.Ala105Thr | |
| ENST00000689944.1:c.749G>A | ||
| ENST00000692637.1:c.6637G>A | ENSP00000509666.1:p.Ala2213Thr | |
| ENST00000301067.12:c.6640G>A MANE Select | ENSP00000301067.7:p.Ala2214Thr | |
| ENST00000301067.11:c.6640G>A | ENSP00000301067.7:p.Ala2214Thr | |
| NM_003482.3:c.6640G>A | NP_003473.3:p.Ala2214Thr | |
| XM_005269162.3:c.6640G>A | XP_005269219.1:p.Ala2214Thr | |
| XM_006719614.2:c.6649G>A | XP_006719677.1:p.Ala2217Thr | |
| XM_006719616.2:c.6637G>A | XP_006719679.1:p.Ala2213Thr | |
| XM_011538770.1:c.6649G>A | XP_011537072.1:p.Ala2217Thr | |
| XM_011538771.1:c.6646G>A | XP_011537073.1:p.Ala2216Thr | |
| XM_011538772.1:c.6640G>A | XP_011537074.1:p.Ala2214Thr | |
| XM_011538773.1:c.6637G>A | XP_011537075.1:p.Ala2213Thr | |
| XM_011538774.1:c.6628G>A | XP_011537076.1:p.Ala2210Thr | |
| XM_011538775.1:c.6649G>A | XP_011537077.1:p.Ala2217Thr | |
| XM_011538776.1:c.6556G>A | XP_011537078.1:p.Ala2186Thr | |
| XR_944740.1:n.8969G>A | ||
| XM_005269162.4:c.6640G>A | XP_005269219.1:p.Ala2214Thr | |
| XM_006719614.4:c.6649G>A | XP_006719677.1:p.Ala2217Thr | |
| XM_006719616.3:c.6637G>A | XP_006719679.1:p.Ala2213Thr | |
| XM_011538770.2:c.6649G>A | XP_011537072.1:p.Ala2217Thr | |
| XM_011538771.2:c.6646G>A | XP_011537073.1:p.Ala2216Thr | |
| XM_011538772.2:c.6640G>A | XP_011537074.1:p.Ala2214Thr | |
| XM_011538773.2:c.6637G>A | XP_011537075.1:p.Ala2213Thr | |
| XM_011538774.2:c.6628G>A | XP_011537076.1:p.Ala2210Thr | |
| XM_011538776.2:c.6556G>A | XP_011537078.1:p.Ala2186Thr | |
| XR_001748874.1:n.7958G>A | ||
| NM_003482.4:c.6640G>A MANE Select | NP_003473.3:p.Ala2214Thr |