Linked Data
ClinVar Variation Id:
424987
dbSNP Id:
rs370985388
ExAC:
11:68707086 A / G
gnomAD v2:
11-68707086-A-G
gnomAD v3:
11-68939618-A-G
gnomAD v4:
11-68939618-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68939618A>G , CM000673.2:g.68939618A>G | GRCh38 |
| NC_000011.9:g.68707086A>G , CM000673.1:g.68707086A>G | GRCh37 |
| NC_000011.8:g.68463662A>G | NCBI36 |
| NG_007976.1:g.40768A>G , LRG_250:g.40768A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2869A>G MANE Select | ENSP00000255078.4:p.Lys957Glu | |
| ENST00000675118.1:c.2357A>G | ||
| ENST00000675615.1:c.*68A>G | ENSP00000502413.1:n.*68A>G | |
| ENST00000675648.1:n.2431A>G | ||
| ENST00000675916.1:c.1300A>G | ||
| ENST00000676173.1:n.3614A>G | ||
| ENST00000255078.7:c.2869A>G | ENSP00000255078.3:p.Lys957Glu | |
| ENST00000543739.5:n.1862A>G | ||
| ENST00000544521.1:n.700A>G | ||
| NM_002180.2:c.2869A>G , LRG_250t1:c.2869A>G | NP_002171.2:p.Lys957Glu | |
| XM_005273974.2:c.1858A>G | XP_005274031.1:p.Lys620Glu | |
| XM_005273975.2:c.1741A>G | XP_005274032.1:p.Lys581Glu | |
| XM_011544994.1:c.1636A>G | XP_011543296.1:p.Lys546Glu | |
| XR_949903.1:n.3158A>G | ||
| XM_005273975.3:c.1741A>G | XP_005274032.1:p.Lys581Glu | |
| XM_017017669.2:c.1858A>G | XP_016873158.1:p.Lys620Glu | |
| XM_017017670.2:c.1858A>G | XP_016873159.1:p.Lys620Glu | |
| XR_949903.3:n.3154A>G | ||
| NM_002180.3:c.2869A>G MANE Select | NP_002171.2:p.Lys957Glu |