Linked Data
ClinVar Variation Id:
2099356
ClinVar RCV Id:
RCV003021685
MyVariant Identifiers:
chr20:g.13782278C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13801632C>G , CM000682.2:g.13801632C>G | GRCh38 |
| NC_000020.10:g.13782278C>G , CM000682.1:g.13782278C>G | GRCh37 |
| NC_000020.9:g.13730278C>G | NCBI36 |
| NG_015811.1:g.21607C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378106.10:c.666C>G MANE Select | ENSP00000367346.5:p.Val222= | |
| ENST00000378081.9:c.666C>G | ENSP00000437325.1:p.Val222= | |
| ENST00000378106.9:c.666C>G | ENSP00000367346.5:p.Val222= | |
| ENST00000463598.1:c.582C>G | ENSP00000420497.1:p.Val194= | |
| ENST00000464269.5:n.339C>G | ||
| ENST00000475968.5:n.543C>G | ||
| ENST00000476124.1:n.65C>G | ||
| ENST00000476536.5:n.626C>G | ||
| ENST00000477732.5:n.502+3132C>G | ||
| ENST00000479716.5:n.187C>G | ||
| ENST00000481249.5:n.543C>G | ||
| ENST00000485738.5:n.643C>G | ||
| ENST00000487478.5:n.90C>G | ||
| NM_001039375.2:c.582C>G | NP_001034464.1:p.Val194= | |
| NM_024120.4:c.666C>G | NP_077025.2:p.Val222= | |
| NR_029377.1:n.709C>G | ||
| XM_006723620.2:c.666C>G | XP_006723683.1:p.Val222= | |
| XM_006723622.2:c.195C>G | XP_006723685.1:p.Val65= | |
| XM_006723623.1:c.195C>G | XP_006723686.1:p.Val65= | |
| XM_006723624.1:c.195C>G | XP_006723687.1:p.Val65= | |
| XM_011529341.1:c.666C>G | XP_011527643.1:p.Val222= | |
| XM_011529342.1:c.666C>G | XP_011527644.1:p.Val222= | |
| XM_011529343.1:c.666C>G | XP_011527645.1:p.Val222= | |
| XM_011529344.1:c.297C>G | XP_011527646.1:p.Val99= | |
| XR_430269.2:n.686C>G | ||
| XR_937140.1:n.686C>G | ||
| NM_001352403.1:c.195C>G | NP_001339332.1:p.Val65= | |
| NM_001352406.1:c.105C>G | NP_001339335.1:p.Val35= | |
| NM_001352407.1:c.105C>G | NP_001339336.1:p.Val35= | |
| NM_001352408.1:c.666C>G | NP_001339337.1:p.Val222= | |
| NR_147978.1:n.709C>G | ||
| NR_147979.1:n.729C>G | ||
| NR_147980.1:n.605C>G | ||
| NR_147981.1:n.843C>G | ||
| NR_147982.1:n.843C>G | ||
| NR_147983.1:n.759C>G | ||
| XM_006723624.2:c.195C>G | XP_006723687.1:p.Val65= | |
| XM_011529342.2:c.666C>G | XP_011527644.1:p.Val222= | |
| XM_024451999.1:c.195C>G | XP_024307767.1:p.Val65= | |
| XR_001754396.1:n.625C>G | ||
| XR_430269.3:n.686C>G | ||
| XR_937140.2:n.686C>G | ||
| NM_024120.5:c.666C>G MANE Select | NP_077025.2:p.Val222= | |
| NM_001039375.3:c.582C>G | NP_001034464.1:p.Val194= | |
| NM_001352403.2:c.195C>G | NP_001339332.1:p.Val65= | |
| NM_001352406.2:c.105C>G | NP_001339335.1:p.Val35= | |
| NM_001352407.2:c.105C>G | NP_001339336.1:p.Val35= | |
| NR_029377.2:n.707C>G | ||
| NR_147978.2:n.707C>G | ||
| NR_147979.2:n.727C>G | ||
| NR_147980.2:n.603C>G | ||
| NR_147981.2:n.841C>G | ||
| NR_147982.2:n.841C>G | ||
| NR_147983.2:n.757C>G | ||
| NM_001352408.2:c.666C>G | NP_001339337.1:p.Val222= |