Linked Data
ClinVar Variation Id:
765787
dbSNP Id:
rs199543540
ExAC:
20:13782279 A / C
gnomAD v2:
20-13782279-A-C
gnomAD v3:
20-13801633-A-C
gnomAD v4:
20-13801633-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13801633A>C , CM000682.2:g.13801633A>C | GRCh38 |
| NC_000020.10:g.13782279A>C , CM000682.1:g.13782279A>C | GRCh37 |
| NC_000020.9:g.13730279A>C | NCBI36 |
| NG_015811.1:g.21608A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378106.10:c.667A>C MANE Select | ENSP00000367346.5:p.Asn223His | |
| ENST00000378081.9:c.667A>C | ENSP00000437325.1:p.Asn223His | |
| ENST00000378106.9:c.667A>C | ENSP00000367346.5:p.Asn223His | |
| ENST00000463598.1:c.583A>C | ENSP00000420497.1:p.Asn195His | |
| ENST00000464269.5:n.340A>C | ||
| ENST00000475968.5:n.544A>C | ||
| ENST00000476124.1:n.66A>C | ||
| ENST00000476536.5:n.627A>C | ||
| ENST00000477732.5:n.502+3133A>C | ||
| ENST00000479716.5:n.188A>C | ||
| ENST00000481249.5:n.544A>C | ||
| ENST00000485738.5:n.644A>C | ||
| ENST00000487478.5:n.91A>C | ||
| NM_001039375.2:c.583A>C | NP_001034464.1:p.Asn195His | |
| NM_024120.4:c.667A>C | NP_077025.2:p.Asn223His | |
| NR_029377.1:n.710A>C | ||
| XM_006723620.2:c.667A>C | XP_006723683.1:p.Asn223His | |
| XM_006723622.2:c.196A>C | XP_006723685.1:p.Asn66His | |
| XM_006723623.1:c.196A>C | XP_006723686.1:p.Asn66His | |
| XM_006723624.1:c.196A>C | XP_006723687.1:p.Asn66His | |
| XM_011529341.1:c.667A>C | XP_011527643.1:p.Asn223His | |
| XM_011529342.1:c.667A>C | XP_011527644.1:p.Asn223His | |
| XM_011529343.1:c.667A>C | XP_011527645.1:p.Asn223His | |
| XM_011529344.1:c.298A>C | XP_011527646.1:p.Asn100His | |
| XR_430269.2:n.687A>C | ||
| XR_937140.1:n.687A>C | ||
| NM_001352403.1:c.196A>C | NP_001339332.1:p.Asn66His | |
| NM_001352406.1:c.106A>C | NP_001339335.1:p.Asn36His | |
| NM_001352407.1:c.106A>C | NP_001339336.1:p.Asn36His | |
| NM_001352408.1:c.667A>C | NP_001339337.1:p.Asn223His | |
| NR_147978.1:n.710A>C | ||
| NR_147979.1:n.730A>C | ||
| NR_147980.1:n.606A>C | ||
| NR_147981.1:n.844A>C | ||
| NR_147982.1:n.844A>C | ||
| NR_147983.1:n.760A>C | ||
| XM_006723624.2:c.196A>C | XP_006723687.1:p.Asn66His | |
| XM_011529342.2:c.667A>C | XP_011527644.1:p.Asn223His | |
| XM_024451999.1:c.196A>C | XP_024307767.1:p.Asn66His | |
| XR_001754396.1:n.626A>C | ||
| XR_430269.3:n.687A>C | ||
| XR_937140.2:n.687A>C | ||
| NM_024120.5:c.667A>C MANE Select | NP_077025.2:p.Asn223His | |
| NM_001039375.3:c.583A>C | NP_001034464.1:p.Asn195His | |
| NM_001352403.2:c.196A>C | NP_001339332.1:p.Asn66His | |
| NM_001352406.2:c.106A>C | NP_001339335.1:p.Asn36His | |
| NM_001352407.2:c.106A>C | NP_001339336.1:p.Asn36His | |
| NR_029377.2:n.708A>C | ||
| NR_147978.2:n.708A>C | ||
| NR_147979.2:n.728A>C | ||
| NR_147980.2:n.604A>C | ||
| NR_147981.2:n.842A>C | ||
| NR_147982.2:n.842A>C | ||
| NR_147983.2:n.758A>C | ||
| NM_001352408.2:c.667A>C | NP_001339337.1:p.Asn223His |