Linked Data
ClinVar Variation Id:
299829
ClinVar RCV Id:
RCV000391701
dbSNP Id:
rs12248740
ExAC:
10:27827367 C / A
gnomAD v2:
10-27827367-C-A
gnomAD v3:
10-27538438-C-A
gnomAD v4:
10-27538438-C-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27538438C>A , CM000672.2:g.27538438C>A | GRCh38 |
| NC_000010.10:g.27827367C>A , CM000672.1:g.27827367C>A | GRCh37 |
| NC_000010.9:g.27867373C>A | NCBI36 |
| NG_032035.1:g.39265C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535776.6:c.*541C>A | ENSP00000439321.2:n.*541C>A | |
| ENST00000611151.5:c.*796C>A | ENSP00000483927.2:n.*796C>A | |
| ENST00000621805.5:c.*387C>A | ENSP00000478479.1:n.*387C>A | |
| ENST00000682082.1:c.*171+216C>A | ENSP00000507542.1:n.*171+216C>A | |
| ENST00000682173.1:c.686C>A | ||
| ENST00000682181.1:c.*1313C>A | ENSP00000507392.1:n.*1313C>A | |
| ENST00000682347.1:c.68-4315C>A | ENSP00000508355.1:n.68-4315C>A | |
| ENST00000682389.1:c.*387C>A | ENSP00000507154.1:n.*387C>A | |
| ENST00000682518.1:n.1023C>A | ||
| ENST00000682668.1:c.1361C>A | ||
| ENST00000682777.1:n.2175C>A | ||
| ENST00000682852.1:c.*853C>A | ENSP00000508341.1:n.*853C>A | |
| ENST00000682963.1:c.*387C>A | ENSP00000507532.1:n.*387C>A | |
| ENST00000683030.1:c.150+413C>A | ||
| ENST00000683419.1:c.*729C>A | ENSP00000508094.1:n.*729C>A | |
| ENST00000683755.1:c.*596C>A | ENSP00000506993.1:n.*596C>A | |
| ENST00000683816.1:c.*931C>A | ENSP00000507834.1:n.*931C>A | |
| ENST00000683915.1:c.153+410C>A | ||
| ENST00000683924.1:c.796C>A | ENSP00000507963.1:n.796C>A | |
| ENST00000684134.1:n.5968C>A | ||
| ENST00000684191.1:c.68-3564C>A | ENSP00000508185.1:n.68-3564C>A | |
| ENST00000684393.1:c.*1313C>A | ENSP00000507136.1:n.*1313C>A | |
| ENST00000684457.1:c.150+413C>A | ||
| ENST00000356940.11:c.*387C>A MANE Select | ENSP00000349415.7:n.*387C>A | |
| ENST00000356940.10:c.*387C>A | ENSP00000349415.6:n.*387C>A | |
| ENST00000465772.5:n.934C>A | ||
| ENST00000535776.5:c.*387C>A | ENSP00000439321.1:n.*387C>A | |
| ENST00000611151.4:c.*387C>A | ENSP00000483927.1:n.*387C>A | |
| ENST00000621805.4:c.1095C>A | ENSP00000478479.1:n.1095C>A | |
| NM_001256410.1:c.*387C>A | NP_001243339.1:n.*387C>A | |
| NM_001256411.1:c.*347C>A | NP_001243340.1:n.*347C>A | |
| NM_001256412.1:c.*387C>A | NP_001243341.1:n.*387C>A | |
| NM_001256415.1:c.*387C>A | NP_001243344.1:n.*387C>A | |
| NM_021252.4:c.*387C>A | NP_067075.1:n.*387C>A | |
| NR_046172.1:n.1142C>A | ||
| NM_001256410.2:c.*387C>A | NP_001243339.1:n.*387C>A | |
| NM_001256411.2:c.*347C>A | NP_001243340.1:n.*347C>A | |
| NM_001256412.2:c.*387C>A | NP_001243341.1:n.*387C>A | |
| NM_001256415.2:c.*387C>A | NP_001243344.1:n.*387C>A | |
| NM_021252.5:c.*387C>A MANE Select | NP_067075.1:n.*387C>A | |
| NR_046172.2:n.1012C>A |