Linked Data
ClinVar Variation Id:
1466257
ClinVar RCV Id:
RCV001963922
dbSNP Id:
rs766140910
ExAC:
20:13782196 A / G
gnomAD v2:
20-13782196-A-G
gnomAD v4:
20-13801550-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13801550A>G , CM000682.2:g.13801550A>G | GRCh38 |
| NC_000020.10:g.13782196A>G , CM000682.1:g.13782196A>G | GRCh37 |
| NC_000020.9:g.13730196A>G | NCBI36 |
| NG_015811.1:g.21525A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378106.10:c.584A>G MANE Select | ENSP00000367346.5:p.Tyr195Cys | |
| ENST00000378081.9:c.584A>G | ENSP00000437325.1:p.Tyr195Cys | |
| ENST00000378106.9:c.584A>G | ENSP00000367346.5:p.Tyr195Cys | |
| ENST00000463598.1:c.500A>G | ENSP00000420497.1:p.Tyr167Cys | |
| ENST00000464269.5:n.257A>G | ||
| ENST00000475968.5:n.461A>G | ||
| ENST00000476536.5:n.544A>G | ||
| ENST00000477732.5:n.502+3050A>G | ||
| ENST00000479716.5:n.105A>G | ||
| ENST00000481249.5:n.461A>G | ||
| ENST00000485738.5:n.561A>G | ||
| ENST00000487478.5:n.8A>G | ||
| NM_001039375.2:c.500A>G | NP_001034464.1:p.Tyr167Cys | |
| NM_024120.4:c.584A>G | NP_077025.2:p.Tyr195Cys | |
| NR_029377.1:n.627A>G | ||
| XM_006723620.2:c.584A>G | XP_006723683.1:p.Tyr195Cys | |
| XM_006723622.2:c.113A>G | XP_006723685.1:p.Tyr38Cys | |
| XM_006723623.1:c.113A>G | XP_006723686.1:p.Tyr38Cys | |
| XM_006723624.1:c.113A>G | XP_006723687.1:p.Tyr38Cys | |
| XM_011529341.1:c.584A>G | XP_011527643.1:p.Tyr195Cys | |
| XM_011529342.1:c.584A>G | XP_011527644.1:p.Tyr195Cys | |
| XM_011529343.1:c.584A>G | XP_011527645.1:p.Tyr195Cys | |
| XM_011529344.1:c.215A>G | XP_011527646.1:p.Tyr72Cys | |
| XR_430269.2:n.604A>G | ||
| XR_937140.1:n.604A>G | ||
| NM_001352403.1:c.113A>G | NP_001339332.1:p.Tyr38Cys | |
| NM_001352406.1:c.23A>G | NP_001339335.1:p.Tyr8Cys | |
| NM_001352407.1:c.23A>G | NP_001339336.1:p.Tyr8Cys | |
| NM_001352408.1:c.584A>G | NP_001339337.1:p.Tyr195Cys | |
| NR_147978.1:n.627A>G | ||
| NR_147979.1:n.647A>G | ||
| NR_147980.1:n.523A>G | ||
| NR_147981.1:n.761A>G | ||
| NR_147982.1:n.761A>G | ||
| NR_147983.1:n.677A>G | ||
| XM_006723624.2:c.113A>G | XP_006723687.1:p.Tyr38Cys | |
| XM_011529342.2:c.584A>G | XP_011527644.1:p.Tyr195Cys | |
| XM_024451999.1:c.113A>G | XP_024307767.1:p.Tyr38Cys | |
| XR_001754396.1:n.543A>G | ||
| XR_430269.3:n.604A>G | ||
| XR_937140.2:n.604A>G | ||
| NM_024120.5:c.584A>G MANE Select | NP_077025.2:p.Tyr195Cys | |
| NM_001039375.3:c.500A>G | NP_001034464.1:p.Tyr167Cys | |
| NM_001352403.2:c.113A>G | NP_001339332.1:p.Tyr38Cys | |
| NM_001352406.2:c.23A>G | NP_001339335.1:p.Tyr8Cys | |
| NM_001352407.2:c.23A>G | NP_001339336.1:p.Tyr8Cys | |
| NR_029377.2:n.625A>G | ||
| NR_147978.2:n.625A>G | ||
| NR_147979.2:n.645A>G | ||
| NR_147980.2:n.521A>G | ||
| NR_147981.2:n.759A>G | ||
| NR_147982.2:n.759A>G | ||
| NR_147983.2:n.675A>G | ||
| NM_001352408.2:c.584A>G | NP_001339337.1:p.Tyr195Cys |