Linked Data
ClinVar Variation Id:
258560
dbSNP Id:
rs11228413
ExAC:
11:68701948 C / T
gnomAD v2:
11-68701948-C-T
gnomAD v3:
11-68934480-C-T
gnomAD v4:
11-68934480-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68934480C>T , CM000673.2:g.68934480C>T | GRCh38 |
| NC_000011.9:g.68701948C>T , CM000673.1:g.68701948C>T | GRCh37 |
| NC_000011.8:g.68458524C>T | NCBI36 |
| NG_007976.1:g.35630C>T , LRG_250:g.35630C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1554C>T MANE Select | ENSP00000255078.4:p.Val518= | |
| ENST00000674672.1:n.17C>T | ||
| ENST00000674955.1:c.*271C>T | ENSP00000502463.1:n.*271C>T | |
| ENST00000675118.1:c.1042C>T | ||
| ENST00000675205.1:n.200C>T | ||
| ENST00000675615.1:c.1554C>T | ENSP00000502413.1:p.Val518= | |
| ENST00000675648.1:n.929C>T | ||
| ENST00000675964.1:n.17C>T | ||
| ENST00000675997.1:n.129C>T | ||
| ENST00000676173.1:n.2299C>T | ||
| ENST00000676182.1:c.17C>T | ||
| ENST00000676228.1:c.*877C>T | ENSP00000502375.1:n.*877C>T | |
| ENST00000255078.7:c.1554C>T | ENSP00000255078.3:p.Val518= | |
| ENST00000539064.5:n.1313C>T | ||
| ENST00000541229.5:n.249C>T | ||
| ENST00000543739.5:n.671C>T | ||
| ENST00000545475.1:n.150C>T | ||
| NM_002180.2:c.1554C>T , LRG_250t1:c.1554C>T | NP_002171.2:p.Val518= | |
| XM_005273974.2:c.543C>T | XP_005274031.1:p.Val181= | |
| XM_005273975.2:c.426C>T | XP_005274032.1:p.Val142= | |
| XM_011544994.1:c.321C>T | XP_011543296.1:p.Val107= | |
| XR_949903.1:n.1656C>T | ||
| XM_005273975.3:c.426C>T | XP_005274032.1:p.Val142= | |
| XM_017017669.2:c.543C>T | XP_016873158.1:p.Val181= | |
| XM_017017670.2:c.543C>T | XP_016873159.1:p.Val181= | |
| XM_017017671.2:c.1554C>T | XP_016873160.1:p.Val518= | |
| XR_949903.3:n.1652C>T | ||
| NM_002180.3:c.1554C>T MANE Select | NP_002171.2:p.Val518= |