Linked Data
ClinVar Variation Id:
799986
ClinVar RCV Id:
RCV000983613
dbSNP Id:
rs1594431729
MyVariant Identifiers:
chr11:g.68685284G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68917816G>A , CM000673.2:g.68917816G>A | GRCh38 |
| NC_000011.9:g.68685284G>A , CM000673.1:g.68685284G>A | GRCh37 |
| NC_000011.8:g.68441860G>A | NCBI36 |
| NG_007976.1:g.18966G>A , LRG_250:g.18966G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.993G>A MANE Select | ENSP00000255078.4:p.Lys331= | |
| ENST00000674745.1:c.81G>A | ENSP00000502738.1:p.Lys27= | |
| ENST00000674775.1:n.81G>A | ||
| ENST00000674955.1:c.993G>A | ENSP00000502463.1:p.Lys331= | |
| ENST00000675118.1:c.481G>A | ||
| ENST00000675119.1:c.420G>A | ENSP00000501861.1:n.420G>A | |
| ENST00000675305.1:c.313G>A | ENSP00000502365.1:n.313G>A | |
| ENST00000675464.1:c.276G>A | ENSP00000502650.1:p.Lys92= | |
| ENST00000675493.1:n.81G>A | ||
| ENST00000675615.1:c.993G>A | ENSP00000502413.1:p.Lys331= | |
| ENST00000675648.1:n.368G>A | ||
| ENST00000675683.1:c.380G>A | ||
| ENST00000675684.1:c.81G>A | ENSP00000502192.1:p.Lys27= | |
| ENST00000676173.1:n.1037G>A | ||
| ENST00000676228.1:c.*316G>A | ENSP00000502375.1:n.*316G>A | |
| ENST00000255078.7:c.993G>A | ENSP00000255078.3:p.Lys331= | |
| NM_002180.2:c.993G>A , LRG_250t1:c.993G>A | NP_002171.2:p.Lys331= | |
| XM_005273974.2:c.-19G>A | XP_005274031.1:n.-19G>A | |
| XM_005273976.1:c.993G>A | XP_005274033.1:p.Lys331= | |
| XR_247198.1:n.1095G>A | ||
| XR_949903.1:n.1095G>A | ||
| XM_005273976.2:c.993G>A | XP_005274033.1:p.Lys331= | |
| XM_017017669.2:c.-19G>A | XP_016873158.1:n.-19G>A | |
| XM_017017670.2:c.-19G>A | XP_016873159.1:n.-19G>A | |
| XM_017017671.2:c.993G>A | XP_016873160.1:p.Lys331= | |
| XR_949903.3:n.1091G>A | ||
| NM_002180.3:c.993G>A MANE Select | NP_002171.2:p.Lys331= |