Linked Data
ClinVar Variation Id:
1471
ClinVar RCV Id:
RCV000001536
dbSNP Id:
rs118204112
PubMed:
PMID:8270254
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092500G>A , CM000673.2:g.119092500G>A | GRCh38 |
| NC_000011.9:g.118963210G>A , CM000673.1:g.118963210G>A | GRCh37 |
| NC_000011.8:g.118468420G>A | NCBI36 |
| NG_008093.1:g.12624G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.583G>A | ENSP00000509288.1:p.Glu195Lys | |
| ENST00000691144.1:n.2729G>A | ||
| ENST00000691249.1:n.1572G>A | ||
| ENST00000442944.7:c.730G>A | ENSP00000392041.3:p.Glu244Lys | |
| ENST00000640813.1:c.558G>A | ENSP00000491061.1:p.Leu186= | |
| ENST00000648026.1:c.642G>A | ENSP00000498044.1:p.Leu214= | |
| ENST00000648374.1:c.697G>A | ENSP00000497255.1:p.Glu233Lys | |
| ENST00000649823.1:n.1205G>A | ||
| ENST00000650101.1:c.679G>A | ENSP00000496970.1:p.Glu227Lys | |
| ENST00000650307.1:n.1574G>A | ||
| ENST00000652429.1:c.748G>A MANE Select | ENSP00000498786.1:p.Glu250Lys | |
| ENST00000278715.7:c.748G>A | ENSP00000278715.3:p.Glu250Lys | |
| ENST00000392841.1:c.697G>A | ENSP00000376584.1:p.Glu233Lys | |
| ENST00000442944.6:c.697G>A | ENSP00000392041.2:p.Glu233Lys | |
| ENST00000537841.5:c.697G>A | ENSP00000444730.1:p.Glu233Lys | |
| ENST00000542044.5:n.1193G>A | ||
| ENST00000542729.5:c.601-258G>A | ENSP00000443058.1:n.601-258G>A | |
| ENST00000543090.5:c.655G>A | ENSP00000445429.1:p.Glu219Lys | |
| ENST00000543543.5:n.1223G>A | ||
| ENST00000544182.1:n.963G>A | ||
| ENST00000544387.5:c.652-258G>A | ENSP00000438424.1:n.652-258G>A | |
| ENST00000545621.5:c.*883G>A | ENSP00000444849.1:n.*883G>A | |
| ENST00000546226.5:n.1276G>A | ||
| NM_000190.3:c.748G>A | NP_000181.2:p.Glu250Lys | |
| NM_001024382.1:c.697G>A | NP_001019553.1:p.Glu233Lys | |
| NM_001258208.1:c.652-258G>A | NP_001245137.1:n.652-258G>A | |
| NM_001258209.1:c.601-258G>A | NP_001245138.1:n.601-258G>A | |
| XM_005271531.1:c.697G>A | XP_005271588.1:p.Glu233Lys | |
| XM_005271532.1:c.697G>A | XP_005271589.1:p.Glu233Lys | |
| XM_005271533.2:c.694G>A | XP_005271590.1:p.Glu232Lys | |
| XM_011542796.1:c.583G>A | XP_011541098.1:p.Glu195Lys | |
| NM_000190.4:c.748G>A MANE Select | NP_000181.2:p.Glu250Lys | |
| NM_001024382.2:c.697G>A | NP_001019553.1:p.Glu233Lys | |
| XM_005271533.3:c.694G>A | XP_005271590.1:p.Glu232Lys | |
| XM_017017629.1:c.697G>A | XP_016873118.1:p.Glu233Lys | |
| XM_024448460.1:c.598-258G>A | XP_024304228.1:n.598-258G>A | |
| NM_001258208.2:c.652-258G>A | NP_001245137.1:n.652-258G>A | |
| NM_001258209.2:c.601-258G>A | NP_001245138.1:n.601-258G>A |