Linked Data
ClinVar Variation Id:
1549130
ClinVar RCV Id:
RCV002187198
dbSNP Id:
rs1984160772
MyVariant Identifiers:
chr20:g.13782321C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13801675C>T , CM000682.2:g.13801675C>T | GRCh38 |
| NC_000020.10:g.13782321C>T , CM000682.1:g.13782321C>T | GRCh37 |
| NC_000020.9:g.13730321C>T | NCBI36 |
| NG_015811.1:g.21650C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378106.10:c.709C>T MANE Select | ENSP00000367346.5:p.Leu237= | |
| ENST00000378081.9:c.709C>T | ENSP00000437325.1:p.Leu237= | |
| ENST00000378106.9:c.709C>T | ENSP00000367346.5:p.Leu237= | |
| ENST00000463598.1:c.625C>T | ENSP00000420497.1:p.Leu209= | |
| ENST00000464269.5:n.382C>T | ||
| ENST00000475968.5:n.586C>T | ||
| ENST00000476124.1:n.108C>T | ||
| ENST00000476536.5:n.669C>T | ||
| ENST00000477732.5:n.502+3175C>T | ||
| ENST00000479716.5:n.230C>T | ||
| ENST00000481249.5:n.586C>T | ||
| ENST00000485738.5:n.686C>T | ||
| ENST00000487478.5:n.133C>T | ||
| NM_001039375.2:c.625C>T | NP_001034464.1:p.Leu209= | |
| NM_024120.4:c.709C>T | NP_077025.2:p.Leu237= | |
| NR_029377.1:n.752C>T | ||
| XM_006723620.2:c.709C>T | XP_006723683.1:p.Leu237= | |
| XM_006723622.2:c.238C>T | XP_006723685.1:p.Leu80= | |
| XM_006723623.1:c.238C>T | XP_006723686.1:p.Leu80= | |
| XM_006723624.1:c.238C>T | XP_006723687.1:p.Leu80= | |
| XM_011529341.1:c.709C>T | XP_011527643.1:p.Leu237= | |
| XM_011529342.1:c.709C>T | XP_011527644.1:p.Leu237= | |
| XM_011529343.1:c.709C>T | XP_011527645.1:p.Leu237= | |
| XM_011529344.1:c.340C>T | XP_011527646.1:p.Leu114= | |
| XR_430269.2:n.729C>T | ||
| XR_937140.1:n.729C>T | ||
| NM_001352403.1:c.238C>T | NP_001339332.1:p.Leu80= | |
| NM_001352406.1:c.148C>T | NP_001339335.1:p.Leu50= | |
| NM_001352407.1:c.148C>T | NP_001339336.1:p.Leu50= | |
| NM_001352408.1:c.709C>T | NP_001339337.1:p.Leu237= | |
| NR_147978.1:n.752C>T | ||
| NR_147979.1:n.772C>T | ||
| NR_147980.1:n.648C>T | ||
| NR_147981.1:n.886C>T | ||
| NR_147982.1:n.886C>T | ||
| NR_147983.1:n.802C>T | ||
| XM_006723624.2:c.238C>T | XP_006723687.1:p.Leu80= | |
| XM_011529342.2:c.709C>T | XP_011527644.1:p.Leu237= | |
| XM_024451999.1:c.238C>T | XP_024307767.1:p.Leu80= | |
| XR_001754396.1:n.668C>T | ||
| XR_430269.3:n.729C>T | ||
| XR_937140.2:n.729C>T | ||
| NM_024120.5:c.709C>T MANE Select | NP_077025.2:p.Leu237= | |
| NM_001039375.3:c.625C>T | NP_001034464.1:p.Leu209= | |
| NM_001352403.2:c.238C>T | NP_001339332.1:p.Leu80= | |
| NM_001352406.2:c.148C>T | NP_001339335.1:p.Leu50= | |
| NM_001352407.2:c.148C>T | NP_001339336.1:p.Leu50= | |
| NR_029377.2:n.750C>T | ||
| NR_147978.2:n.750C>T | ||
| NR_147979.2:n.770C>T | ||
| NR_147980.2:n.646C>T | ||
| NR_147981.2:n.884C>T | ||
| NR_147982.2:n.884C>T | ||
| NR_147983.2:n.800C>T | ||
| NM_001352408.2:c.709C>T | NP_001339337.1:p.Leu237= |