Linked Data
ClinVar Variation Id:
258577
dbSNP Id:
rs10896380
ExAC:
11:68682402 A / G
gnomAD v2:
11-68682402-A-G
gnomAD v3:
11-68914934-A-G
gnomAD v4:
11-68914934-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914934A>G , CM000673.2:g.68914934A>G | GRCh38 |
| NC_000011.9:g.68682402A>G , CM000673.1:g.68682402A>G | GRCh37 |
| NC_000011.8:g.68438978A>G | NCBI36 |
| NG_007976.1:g.16084A>G , LRG_250:g.16084A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.823A>G MANE Select | ENSP00000255078.4:p.Ile275Val | |
| ENST00000539224.2:c.952A>G | ||
| ENST00000674955.1:c.823A>G | ENSP00000502463.1:p.Ile275Val | |
| ENST00000675118.1:c.170A>G | ||
| ENST00000675119.1:c.112A>G | ENSP00000501861.1:p.Ile38Val | |
| ENST00000675305.1:c.112A>G | ENSP00000502365.1:p.Ile38Val | |
| ENST00000675464.1:c.112A>G | ENSP00000502650.1:p.Ile38Val | |
| ENST00000675615.1:c.823A>G | ENSP00000502413.1:p.Ile275Val | |
| ENST00000675683.1:c.210A>G | ||
| ENST00000676173.1:n.867A>G | ||
| ENST00000676228.1:c.*146A>G | ENSP00000502375.1:n.*146A>G | |
| ENST00000676239.1:n.137A>G | ||
| ENST00000255078.7:c.823A>G | ENSP00000255078.3:p.Ile275Val | |
| ENST00000539224.1:c.*146A>G | ENSP00000440465.1:n.*146A>G | |
| NM_002180.2:c.823A>G , LRG_250t1:c.823A>G | NP_002171.2:p.Ile275Val | |
| XM_005273974.2:c.-189A>G | XP_005274031.1:n.-189A>G | |
| XM_005273976.1:c.823A>G | XP_005274033.1:p.Ile275Val | |
| XR_247198.1:n.925A>G | ||
| XR_949903.1:n.925A>G | ||
| XM_005273976.2:c.823A>G | XP_005274033.1:p.Ile275Val | |
| XM_017017669.2:c.-189A>G | XP_016873158.1:n.-189A>G | |
| XM_017017670.2:c.-189A>G | XP_016873159.1:n.-189A>G | |
| XM_017017671.2:c.823A>G | XP_016873160.1:p.Ile275Val | |
| XR_949903.3:n.921A>G | ||
| NM_002180.3:c.823A>G MANE Select | NP_002171.2:p.Ile275Val |