Linked Data
dbSNP Id:
rs1859413057
gnomAD v3:
11-68933822-A-G
gnomAD v4:
11-68933822-A-G
MyVariant Identifiers:
chr11:g.68701290A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933822A>G , CM000673.2:g.68933822A>G | GRCh38 |
| NC_000011.9:g.68701290A>G , CM000673.1:g.68701290A>G | GRCh37 |
| NC_000011.8:g.68457866A>G | NCBI36 |
| NG_007976.1:g.34972A>G , LRG_250:g.34972A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1446A>G MANE Select | ENSP00000255078.4:p.Glu482= | |
| ENST00000674955.1:c.*163A>G | ENSP00000502463.1:n.*163A>G | |
| ENST00000675118.1:c.934A>G | ||
| ENST00000675205.1:n.183+341A>G | ||
| ENST00000675615.1:c.1446A>G | ENSP00000502413.1:p.Glu482= | |
| ENST00000675648.1:n.821A>G | ||
| ENST00000675997.1:n.113-642A>G | ||
| ENST00000676173.1:n.2191A>G | ||
| ENST00000676228.1:c.*769A>G | ENSP00000502375.1:n.*769A>G | |
| ENST00000255078.7:c.1446A>G | ENSP00000255078.3:p.Glu482= | |
| ENST00000537458.5:n.563A>G | ||
| ENST00000539064.5:n.1205A>G | ||
| ENST00000541229.5:n.141A>G | ||
| ENST00000543739.5:n.563A>G | ||
| NM_002180.2:c.1446A>G , LRG_250t1:c.1446A>G | NP_002171.2:p.Glu482= | |
| XM_005273974.2:c.435A>G | XP_005274031.1:p.Glu145= | |
| XM_005273975.2:c.318A>G | XP_005274032.1:p.Glu106= | |
| XM_011544994.1:c.213A>G | XP_011543296.1:p.Glu71= | |
| XR_949903.1:n.1548A>G | ||
| XM_005273975.3:c.318A>G | XP_005274032.1:p.Glu106= | |
| XM_017017669.2:c.435A>G | XP_016873158.1:p.Glu145= | |
| XM_017017670.2:c.435A>G | XP_016873159.1:p.Glu145= | |
| XM_017017671.2:c.1446A>G | XP_016873160.1:p.Glu482= | |
| XR_949903.3:n.1544A>G | ||
| NM_002180.3:c.1446A>G MANE Select | NP_002171.2:p.Glu482= |