Linked Data
ClinVar Variation Id:
2022043
ClinVar RCV Id:
RCV002847475
dbSNP Id:
rs750343583
ExAC:
8:28574504 C / A
gnomAD v2:
8-28574504-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.28716987C>A , CM000670.2:g.28716987C>A | GRCh38 |
| NC_000008.10:g.28574504C>A , CM000670.1:g.28574504C>A | GRCh37 |
| NC_000008.9:g.28630423C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696177.1:c.928C>A | ENSP00000512467.1:p.Pro310Thr | |
| ENST00000696178.1:c.928C>A | ENSP00000512468.1:p.Pro310Thr | |
| ENST00000696179.1:c.928C>A | ENSP00000512469.1:p.Pro310Thr | |
| ENST00000696180.1:c.928C>A | ENSP00000512470.1:p.Pro310Thr | |
| ENST00000696181.1:c.928C>A | ENSP00000512471.1:p.Pro310Thr | |
| ENST00000696182.1:c.-114-14236C>A | ENSP00000512472.1:n.-114-14236C>A | |
| ENST00000696184.1:c.928C>A | ENSP00000512473.1:p.Pro310Thr | |
| ENST00000696185.1:n.1561C>A | ||
| ENST00000696186.1:c.928C>A | ENSP00000512474.1:p.Pro310Thr | |
| ENST00000220562.9:c.928C>A MANE Select | ENSP00000220562.4:p.Pro310Thr | |
| ENST00000220562.8:c.928C>A | ENSP00000220562.4:p.Pro310Thr | |
| ENST00000519886.5:n.631+921C>A | ||
| ENST00000521532.5:c.42+6484C>A | ENSP00000431013.1:n.42+6484C>A | |
| ENST00000522698.1:c.213+90C>A | ||
| ENST00000523149.5:c.28-252C>A | ENSP00000428691.1:n.28-252C>A | |
| NM_001440.3:c.928C>A | NP_001431.1:p.Pro310Thr | |
| NR_073468.1:n.188-14236C>A | ||
| NR_073469.1:n.763+921C>A | ||
| XM_011544440.1:c.928C>A | XP_011542742.1:p.Pro310Thr | |
| XM_011544440.3:c.928C>A | XP_011542742.1:p.Pro310Thr | |
| XM_024447094.1:c.928C>A | XP_024302862.1:p.Pro310Thr | |
| XM_024447095.1:c.928C>A | XP_024302863.1:p.Pro310Thr | |
| XM_024447096.1:c.928C>A | XP_024302864.1:p.Pro310Thr | |
| NM_001440.4:c.928C>A MANE Select | NP_001431.1:p.Pro310Thr | |
| NR_073468.2:n.160-14236C>A | ||
| NR_073469.2:n.735+921C>A |