Linked Data
ClinVar Variation Id:
372253
dbSNP Id:
rs757043077
ExAC:
20:13789519 G / T
gnomAD v2:
20-13789519-G-T
gnomAD v3:
20-13808873-G-T
gnomAD v4:
20-13808873-G-T
PubMed:
PMID:21607760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13808873G>T , CM000682.2:g.13808873G>T | GRCh38 |
| NC_000020.10:g.13789519G>T , CM000682.1:g.13789519G>T | GRCh37 |
| NC_000020.9:g.13737519G>T | NCBI36 |
| NG_015811.1:g.28848G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378106.10:c.749G>T MANE Select | ENSP00000367346.5:p.Gly250Val | |
| ENST00000378081.9:c.749G>T | ENSP00000437325.1:p.Gly250Val | |
| ENST00000378106.9:c.749G>T | ENSP00000367346.5:p.Gly250Val | |
| ENST00000463598.1:c.665G>T | ENSP00000420497.1:p.Gly222Val | |
| ENST00000464269.5:n.422G>T | ||
| ENST00000475968.5:n.626G>T | ||
| ENST00000476536.5:n.709G>T | ||
| ENST00000477732.5:n.534G>T | ||
| ENST00000479716.5:n.270G>T | ||
| ENST00000481249.5:n.626G>T | ||
| ENST00000487478.5:n.229G>T | ||
| NM_001039375.2:c.665G>T | NP_001034464.1:p.Gly222Val | |
| NM_024120.4:c.749G>T | NP_077025.2:p.Gly250Val | |
| NR_029377.1:n.792G>T | ||
| XM_006723622.2:c.278G>T | XP_006723685.1:p.Gly93Val | |
| XM_006723623.1:c.278G>T | XP_006723686.1:p.Gly93Val | |
| XM_006723624.1:c.278G>T | XP_006723687.1:p.Gly93Val | |
| XM_011529341.1:c.749G>T | XP_011527643.1:p.Gly250Val | |
| XM_011529343.1:c.749G>T | XP_011527645.1:p.Gly250Val | |
| XM_011529344.1:c.380G>T | XP_011527646.1:p.Gly127Val | |
| XR_430269.2:n.825G>T | ||
| XR_937140.1:n.769G>T | ||
| NM_001352403.1:c.278G>T | NP_001339332.1:p.Gly93Val | |
| NM_001352406.1:c.188G>T | NP_001339335.1:p.Gly63Val | |
| NM_001352407.1:c.188G>T | NP_001339336.1:p.Gly63Val | |
| NR_147978.1:n.848G>T | ||
| NR_147979.1:n.812G>T | ||
| NR_147980.1:n.688G>T | ||
| NR_147981.1:n.926G>T | ||
| NR_147982.1:n.982G>T | ||
| NR_147983.1:n.842G>T | ||
| XM_006723624.2:c.278G>T | XP_006723687.1:p.Gly93Val | |
| XM_024451999.1:c.278G>T | XP_024307767.1:p.Gly93Val | |
| XR_001754396.1:n.708G>T | ||
| XR_430269.3:n.825G>T | ||
| XR_937140.2:n.769G>T | ||
| NM_024120.5:c.749G>T MANE Select | NP_077025.2:p.Gly250Val | |
| NM_001039375.3:c.665G>T | NP_001034464.1:p.Gly222Val | |
| NM_001352403.2:c.278G>T | NP_001339332.1:p.Gly93Val | |
| NM_001352406.2:c.188G>T | NP_001339335.1:p.Gly63Val | |
| NM_001352407.2:c.188G>T | NP_001339336.1:p.Gly63Val | |
| NR_029377.2:n.790G>T | ||
| NR_147978.2:n.846G>T | ||
| NR_147979.2:n.810G>T | ||
| NR_147980.2:n.686G>T | ||
| NR_147981.2:n.924G>T | ||
| NR_147982.2:n.980G>T | ||
| NR_147983.2:n.840G>T |