Linked Data
ClinVar Variation Id:
2700598
ClinVar RCV Id:
RCV003547298
dbSNP Id:
rs1946295178
gnomAD v3:
11-119092431-A-G
gnomAD v4:
11-119092431-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092431A>G , CM000673.2:g.119092431A>G | GRCh38 |
| NC_000011.9:g.118963141A>G , CM000673.1:g.118963141A>G | GRCh37 |
| NC_000011.8:g.118468351A>G | NCBI36 |
| NG_008093.1:g.12555A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.514A>G | ENSP00000509288.1:p.Lys172Glu | |
| ENST00000691144.1:n.2660A>G | ||
| ENST00000691249.1:n.1503A>G | ||
| ENST00000442944.7:c.661A>G | ENSP00000392041.3:p.Lys221Glu | |
| ENST00000536813.6:c.628A>G | ENSP00000438726.2:p.Lys210Glu | |
| ENST00000640813.1:c.489A>G | ENSP00000491061.1:p.Pro163= | |
| ENST00000648026.1:c.573A>G | ENSP00000498044.1:p.Pro191= | |
| ENST00000648374.1:c.628A>G | ENSP00000497255.1:p.Lys210Glu | |
| ENST00000649823.1:n.1136A>G | ||
| ENST00000650101.1:c.610A>G | ENSP00000496970.1:p.Lys204Glu | |
| ENST00000650307.1:n.1505A>G | ||
| ENST00000652429.1:c.679A>G MANE Select | ENSP00000498786.1:p.Lys227Glu | |
| ENST00000278715.7:c.679A>G | ENSP00000278715.3:p.Lys227Glu | |
| ENST00000392841.1:c.628A>G | ENSP00000376584.1:p.Lys210Glu | |
| ENST00000442944.6:c.628A>G | ENSP00000392041.2:p.Lys210Glu | |
| ENST00000537841.5:c.628A>G | ENSP00000444730.1:p.Lys210Glu | |
| ENST00000542044.5:n.1124A>G | ||
| ENST00000542729.5:c.600+268A>G | ENSP00000443058.1:n.600+268A>G | |
| ENST00000543090.5:c.586A>G | ENSP00000445429.1:p.Lys196Glu | |
| ENST00000543543.5:n.1154A>G | ||
| ENST00000544182.1:n.894A>G | ||
| ENST00000544387.5:c.651+268A>G | ENSP00000438424.1:n.651+268A>G | |
| ENST00000545621.5:c.*814A>G | ENSP00000444849.1:n.*814A>G | |
| ENST00000546226.5:n.1207A>G | ||
| NM_000190.3:c.679A>G | NP_000181.2:p.Lys227Glu | |
| NM_001024382.1:c.628A>G | NP_001019553.1:p.Lys210Glu | |
| NM_001258208.1:c.651+268A>G | NP_001245137.1:n.651+268A>G | |
| NM_001258209.1:c.600+268A>G | NP_001245138.1:n.600+268A>G | |
| XM_005271531.1:c.628A>G | XP_005271588.1:p.Lys210Glu | |
| XM_005271532.1:c.628A>G | XP_005271589.1:p.Lys210Glu | |
| XM_005271533.2:c.625A>G | XP_005271590.1:p.Lys209Glu | |
| XM_011542796.1:c.514A>G | XP_011541098.1:p.Lys172Glu | |
| NM_000190.4:c.679A>G MANE Select | NP_000181.2:p.Lys227Glu | |
| NM_001024382.2:c.628A>G | NP_001019553.1:p.Lys210Glu | |
| XM_005271533.3:c.625A>G | XP_005271590.1:p.Lys209Glu | |
| XM_017017629.1:c.628A>G | XP_016873118.1:p.Lys210Glu | |
| XM_024448460.1:c.597+268A>G | XP_024304228.1:n.597+268A>G | |
| NM_001258208.2:c.651+268A>G | NP_001245137.1:n.651+268A>G | |
| NM_001258209.2:c.600+268A>G | NP_001245138.1:n.600+268A>G |