Linked Data
ClinVar Variation Id:
1467
dbSNP Id:
rs118204110
gnomAD v4:
11-119092419-G-A
PubMed:
PMID:8270254
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092419G>A , CM000673.2:g.119092419G>A | GRCh38 |
| NC_000011.9:g.118963129G>A , CM000673.1:g.118963129G>A | GRCh37 |
| NC_000011.8:g.118468339G>A | NCBI36 |
| NG_008093.1:g.12543G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686218.1:c.502G>A | ENSP00000509288.1:p.Glu168Lys | |
| ENST00000691144.1:n.2648G>A | ||
| ENST00000691249.1:n.1491G>A | ||
| ENST00000442944.7:c.649G>A | ENSP00000392041.3:p.Glu217Lys | |
| ENST00000536813.6:c.616G>A | ENSP00000438726.2:p.Glu206Lys | |
| ENST00000640813.1:c.477G>A | ENSP00000491061.1:p.Trp159Ter | |
| ENST00000648026.1:c.561G>A | ENSP00000498044.1:p.Trp187Ter | |
| ENST00000648374.1:c.616G>A | ENSP00000497255.1:p.Glu206Lys | |
| ENST00000649823.1:n.1124G>A | ||
| ENST00000650101.1:c.598G>A | ENSP00000496970.1:p.Glu200Lys | |
| ENST00000650307.1:n.1493G>A | ||
| ENST00000652429.1:c.667G>A MANE Select | ENSP00000498786.1:p.Glu223Lys | |
| ENST00000278715.7:c.667G>A | ENSP00000278715.3:p.Glu223Lys | |
| ENST00000392841.1:c.616G>A | ENSP00000376584.1:p.Glu206Lys | |
| ENST00000442944.6:c.616G>A | ENSP00000392041.2:p.Glu206Lys | |
| ENST00000537841.5:c.616G>A | ENSP00000444730.1:p.Glu206Lys | |
| ENST00000542044.5:n.1112G>A | ||
| ENST00000542729.5:c.600+256G>A | ENSP00000443058.1:n.600+256G>A | |
| ENST00000543090.5:c.574G>A | ENSP00000445429.1:p.Glu192Lys | |
| ENST00000543543.5:n.1142G>A | ||
| ENST00000544182.1:n.882G>A | ||
| ENST00000544387.5:c.651+256G>A | ENSP00000438424.1:n.651+256G>A | |
| ENST00000545621.5:c.*802G>A | ENSP00000444849.1:n.*802G>A | |
| ENST00000546226.5:n.1195G>A | ||
| NM_000190.3:c.667G>A | NP_000181.2:p.Glu223Lys | |
| NM_001024382.1:c.616G>A | NP_001019553.1:p.Glu206Lys | |
| NM_001258208.1:c.651+256G>A | NP_001245137.1:n.651+256G>A | |
| NM_001258209.1:c.600+256G>A | NP_001245138.1:n.600+256G>A | |
| XM_005271531.1:c.616G>A | XP_005271588.1:p.Glu206Lys | |
| XM_005271532.1:c.616G>A | XP_005271589.1:p.Glu206Lys | |
| XM_005271533.2:c.613G>A | XP_005271590.1:p.Glu205Lys | |
| XM_011542796.1:c.502G>A | XP_011541098.1:p.Glu168Lys | |
| NM_000190.4:c.667G>A MANE Select | NP_000181.2:p.Glu223Lys | |
| NM_001024382.2:c.616G>A | NP_001019553.1:p.Glu206Lys | |
| XM_005271533.3:c.613G>A | XP_005271590.1:p.Glu205Lys | |
| XM_017017629.1:c.616G>A | XP_016873118.1:p.Glu206Lys | |
| XM_024448460.1:c.597+256G>A | XP_024304228.1:n.597+256G>A | |
| NM_001258208.2:c.651+256G>A | NP_001245137.1:n.651+256G>A | |
| NM_001258209.2:c.600+256G>A | NP_001245138.1:n.600+256G>A |