Linked Data
ClinVar Variation Id:
423928
ClinVar RCV Id:
RCV000483874
dbSNP Id:
rs1064796704
gnomAD v4:
20-63488401-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63488401C>T , CM000682.2:g.63488401C>T | GRCh38 |
| NC_000020.10:g.62119754C>T , CM000682.1:g.62119754C>T | GRCh37 |
| NC_000020.9:g.61590198C>T | NCBI36 |
| NG_034083.1:g.15915G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706948.1:c.1265-18G>A | ENSP00000516668.1:n.1265-18G>A | |
| ENST00000706949.1:c.1289G>A | ENSP00000516669.1:p.Arg430Lys | |
| ENST00000217182.6:c.1289G>A MANE Select | ENSP00000217182.3:p.Arg430Lys | |
| ENST00000298049.12:c.1289G>A | ENSP00000298049.8:p.Arg430Lys | |
| ENST00000675519.1:c.*1161G>A | ENSP00000501859.1:n.*1161G>A | |
| ENST00000217182.4:c.1289G>A | ENSP00000217182.3:p.Arg430Lys | |
| ENST00000298049.11:c.1289G>A | ENSP00000298049.7:p.Arg430Lys | |
| NM_001958.3:c.1289G>A | NP_001949.1:p.Arg430Lys | |
| NM_001958.4:c.1289G>A | NP_001949.1:p.Arg430Lys | |
| NM_001958.5:c.1289G>A MANE Select | NP_001949.1:p.Arg430Lys |