Linked Data
ClinVar Variation Id:
2146027
dbSNP Id:
rs751318172
ExAC:
20:13782328 T / C
gnomAD v2:
20-13782328-T-C
gnomAD v3:
20-13801682-T-C
gnomAD v4:
20-13801682-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13801682T>C , CM000682.2:g.13801682T>C | GRCh38 |
| NC_000020.10:g.13782328T>C , CM000682.1:g.13782328T>C | GRCh37 |
| NC_000020.9:g.13730328T>C | NCBI36 |
| NG_015811.1:g.21657T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378106.10:c.716T>C MANE Select | ENSP00000367346.5:p.Val239Ala | |
| ENST00000378081.9:c.716T>C | ENSP00000437325.1:p.Val239Ala | |
| ENST00000378106.9:c.716T>C | ENSP00000367346.5:p.Val239Ala | |
| ENST00000463598.1:c.632T>C | ENSP00000420497.1:p.Val211Ala | |
| ENST00000464269.5:n.389T>C | ||
| ENST00000475968.5:n.593T>C | ||
| ENST00000476124.1:n.115T>C | ||
| ENST00000476536.5:n.676T>C | ||
| ENST00000477732.5:n.502+3182T>C | ||
| ENST00000479716.5:n.237T>C | ||
| ENST00000481249.5:n.593T>C | ||
| ENST00000485738.5:n.693T>C | ||
| ENST00000487478.5:n.140T>C | ||
| NM_001039375.2:c.632T>C | NP_001034464.1:p.Val211Ala | |
| NM_024120.4:c.716T>C | NP_077025.2:p.Val239Ala | |
| NR_029377.1:n.759T>C | ||
| XM_006723620.2:c.716T>C | XP_006723683.1:p.Val239Ala | |
| XM_006723622.2:c.245T>C | XP_006723685.1:p.Val82Ala | |
| XM_006723623.1:c.245T>C | XP_006723686.1:p.Val82Ala | |
| XM_006723624.1:c.245T>C | XP_006723687.1:p.Val82Ala | |
| XM_011529341.1:c.716T>C | XP_011527643.1:p.Val239Ala | |
| XM_011529342.1:c.716T>C | XP_011527644.1:p.Val239Ala | |
| XM_011529343.1:c.716T>C | XP_011527645.1:p.Val239Ala | |
| XM_011529344.1:c.347T>C | XP_011527646.1:p.Val116Ala | |
| XR_430269.2:n.736T>C | ||
| XR_937140.1:n.736T>C | ||
| NM_001352403.1:c.245T>C | NP_001339332.1:p.Val82Ala | |
| NM_001352406.1:c.155T>C | NP_001339335.1:p.Val52Ala | |
| NM_001352407.1:c.155T>C | NP_001339336.1:p.Val52Ala | |
| NM_001352408.1:c.716T>C | NP_001339337.1:p.Val239Ala | |
| NR_147978.1:n.759T>C | ||
| NR_147979.1:n.779T>C | ||
| NR_147980.1:n.655T>C | ||
| NR_147981.1:n.893T>C | ||
| NR_147982.1:n.893T>C | ||
| NR_147983.1:n.809T>C | ||
| XM_006723624.2:c.245T>C | XP_006723687.1:p.Val82Ala | |
| XM_011529342.2:c.716T>C | XP_011527644.1:p.Val239Ala | |
| XM_024451999.1:c.245T>C | XP_024307767.1:p.Val82Ala | |
| XR_001754396.1:n.675T>C | ||
| XR_430269.3:n.736T>C | ||
| XR_937140.2:n.736T>C | ||
| NM_024120.5:c.716T>C MANE Select | NP_077025.2:p.Val239Ala | |
| NM_001039375.3:c.632T>C | NP_001034464.1:p.Val211Ala | |
| NM_001352403.2:c.245T>C | NP_001339332.1:p.Val82Ala | |
| NM_001352406.2:c.155T>C | NP_001339335.1:p.Val52Ala | |
| NM_001352407.2:c.155T>C | NP_001339336.1:p.Val52Ala | |
| NR_029377.2:n.757T>C | ||
| NR_147978.2:n.757T>C | ||
| NR_147979.2:n.777T>C | ||
| NR_147980.2:n.653T>C | ||
| NR_147981.2:n.891T>C | ||
| NR_147982.2:n.891T>C | ||
| NR_147983.2:n.807T>C | ||
| NM_001352408.2:c.716T>C | NP_001339337.1:p.Val239Ala |