Linked Data
ClinVar Variation Id:
1143109
ClinVar RCV Id:
RCV001481144
dbSNP Id:
rs1958049296
MyVariant Identifiers:
chr11:g.76925738G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77214693G>A , CM000673.2:g.77214693G>A | GRCh38 |
| NC_000011.9:g.76925738G>A , CM000673.1:g.76925738G>A | GRCh37 |
| NC_000011.8:g.76603386G>A | NCBI36 |
| NG_009086.1:g.91429G>A | |
| NG_009086.2:g.91448G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6645G>A MANE Select | ENSP00000386331.3:p.Lys2215= | |
| ENST00000670577.1:c.4446G>A | ||
| ENST00000409619.6:c.6498G>A | ENSP00000386635.2:p.Lys2166= | |
| ENST00000409709.7:c.6645G>A | ENSP00000386331.3:p.Lys2215= | |
| ENST00000458169.2:c.4071G>A | ENSP00000417017.2:p.Lys1357= | |
| ENST00000458637.6:c.6525G>A | ENSP00000392185.2:p.Lys2175= | |
| ENST00000481328.7:n.5195G>A | ||
| ENST00000605744.1:n.2159G>A | ||
| NM_000260.3:c.6645G>A | NP_000251.3:p.Lys2215= | |
| NM_001127180.1:c.6525G>A | NP_001120652.1:p.Lys2175= | |
| XM_005274012.2:c.6528G>A | XP_005274069.1:p.Lys2176= | |
| XM_006718561.2:c.6531G>A | XP_006718624.1:p.Lys2177= | |
| XR_949941.1:n.6939G>A | ||
| XM_017017780.1:c.6735G>A | XP_016873269.1:p.Lys2245= | |
| XM_017017784.1:c.6618G>A | XP_016873273.1:p.Lys2206= | |
| XM_017017788.1:c.6621G>A | XP_016873277.1:p.Lys2207= | |
| XR_001747885.1:n.6724G>A | ||
| XR_001747887.1:n.6710G>A | ||
| NM_000260.4:c.6645G>A MANE Select | NP_000251.3:p.Lys2215= | |
| NM_001127180.2:c.6525G>A | NP_001120652.1:p.Lys2175= | |
| NM_001369365.1:c.6498G>A | NP_001356294.1:p.Lys2166= |