Linked Data
ClinVar Variation Id:
2152140
ClinVar RCV Id:
RCV003079138
dbSNP Id:
rs141200845
ExAC:
11:118963971 G / A
gnomAD v2:
11-118963971-G-A
gnomAD v3:
11-119093261-G-A
gnomAD v4:
11-119093261-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119093261G>A , CM000673.2:g.119093261G>A | GRCh38 |
| NC_000011.9:g.118963971G>A , CM000673.1:g.118963971G>A | GRCh37 |
| NC_000011.8:g.118469181G>A | NCBI36 |
| NG_008093.1:g.13385G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.899G>A | ENSP00000509288.1:p.Arg300Gln | |
| ENST00000691144.1:n.3279G>A | ||
| ENST00000691249.1:n.1888G>A | ||
| ENST00000442944.7:c.1046G>A | ENSP00000392041.3:p.Arg349Gln | |
| ENST00000640813.1:c.*301G>A | ENSP00000491061.1:n.*301G>A | |
| ENST00000648026.1:c.958G>A | ENSP00000498044.1:n.958G>A | |
| ENST00000648374.1:c.1013G>A | ENSP00000497255.1:p.Arg338Gln | |
| ENST00000650101.1:c.995G>A | ENSP00000496970.1:p.Arg332Gln | |
| ENST00000650307.1:n.1890G>A | ||
| ENST00000652429.1:c.1064G>A MANE Select | ENSP00000498786.1:p.Arg355Gln | |
| ENST00000278715.7:c.1064G>A | ENSP00000278715.3:p.Arg355Gln | |
| ENST00000392841.1:c.1013G>A | ENSP00000376584.1:p.Arg338Gln | |
| ENST00000442944.6:c.1013G>A | ENSP00000392041.2:p.Arg338Gln | |
| ENST00000537841.5:c.1013G>A | ENSP00000444730.1:p.Arg338Gln | |
| ENST00000539045.1:n.563G>A | ||
| ENST00000542044.5:n.1509G>A | ||
| ENST00000542729.5:c.893G>A | ENSP00000443058.1:p.Arg298Gln | |
| ENST00000543090.5:c.971G>A | ENSP00000445429.1:p.Arg324Gln | |
| ENST00000543543.5:n.1539G>A | ||
| ENST00000544182.1:n.1513G>A | ||
| ENST00000544387.5:c.944G>A | ENSP00000438424.1:p.Arg315Gln | |
| ENST00000546226.5:n.1826G>A | ||
| NM_000190.3:c.1064G>A | NP_000181.2:p.Arg355Gln | |
| NM_001024382.1:c.1013G>A | NP_001019553.1:p.Arg338Gln | |
| NM_001258208.1:c.944G>A | NP_001245137.1:p.Arg315Gln | |
| NM_001258209.1:c.893G>A | NP_001245138.1:p.Arg298Gln | |
| XM_005271531.1:c.1013G>A | XP_005271588.1:p.Arg338Gln | |
| XM_005271532.1:c.1013G>A | XP_005271589.1:p.Arg338Gln | |
| XM_005271533.2:c.1010G>A | XP_005271590.1:p.Arg337Gln | |
| XM_011542796.1:c.899G>A | XP_011541098.1:p.Arg300Gln | |
| NM_000190.4:c.1064G>A MANE Select | NP_000181.2:p.Arg355Gln | |
| NM_001024382.2:c.1013G>A | NP_001019553.1:p.Arg338Gln | |
| XM_005271533.3:c.1010G>A | XP_005271590.1:p.Arg337Gln | |
| XM_017017629.1:c.1013G>A | XP_016873118.1:p.Arg338Gln | |
| XM_024448460.1:c.890G>A | XP_024304228.1:p.Arg297Gln | |
| NM_001258208.2:c.944G>A | NP_001245137.1:p.Arg315Gln | |
| NM_001258209.2:c.893G>A | NP_001245138.1:p.Arg298Gln |