Linked Data
ClinVar Variation Id:
1582069
ClinVar RCV Id:
RCV002088743
dbSNP Id:
rs2134255280
MyVariant Identifiers:
chr11:g.67257807A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490336A>G , CM000673.2:g.67490336A>G | GRCh38 |
| NC_000011.9:g.67257807A>G , CM000673.1:g.67257807A>G | GRCh37 |
| NC_000011.8:g.67014383A>G | NCBI36 |
| NG_008969.1:g.12303A>G , LRG_460:g.12303A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.643A>G | ||
| ENST00000528641.7:c.477A>G | ENSP00000434982.3:p.Glu159= | |
| ENST00000529797.2:n.1178A>G | ||
| ENST00000682324.1:c.469-661A>G | ENSP00000508017.1:n.469-661A>G | |
| ENST00000682659.1:c.297A>G | ENSP00000507351.1:p.Glu99= | |
| ENST00000682699.1:c.666A>G | ENSP00000507935.1:p.Glu222= | |
| ENST00000683237.1:c.666A>G | ENSP00000507343.1:p.Glu222= | |
| ENST00000683856.1:c.489A>G | ENSP00000507979.1:p.Glu163= | |
| ENST00000684006.1:c.666A>G | ENSP00000507269.1:p.Glu222= | |
| ENST00000684657.1:c.486A>G | ENSP00000507961.1:p.Glu162= | |
| ENST00000279146.8:c.666A>G MANE Select | ENSP00000279146.3:p.Glu222= | |
| ENST00000279146.7:c.666A>G | ENSP00000279146.3:p.Glu222= | |
| ENST00000525341.1:c.318A>G | ENSP00000476993.1:p.Glu106= | |
| ENST00000528641.6:c.477A>G | ENSP00000434982.2:p.Glu159= | |
| NM_001302959.1:c.489A>G | NP_001289888.1:p.Glu163= | |
| NM_001302960.1:c.666A>G | NP_001289889.1:p.Glu222= | |
| NM_003977.3:c.666A>G | NP_003968.3:p.Glu222= | |
| XM_024448761.1:c.666A>G | XP_024304529.1:p.Glu222= | |
| NM_003977.4:c.666A>G MANE Select | NP_003968.3:p.Glu222= | |
| NM_001302960.2:c.666A>G | NP_001289889.1:p.Glu222= | |
| NM_001302959.2:c.489A>G | NP_001289888.1:p.Glu163= |