Linked Data
ClinVar Variation Id:
2423197
ClinVar RCV Id:
RCV003111339
dbSNP Id:
rs200666489
gnomAD v2:
20-61981729-C-T
gnomAD v4:
20-63350377-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350377C>T , CM000682.2:g.63350377C>T | GRCh38 |
| NC_000020.10:g.61981729C>T , CM000682.1:g.61981729C>T | GRCh37 |
| NC_000020.9:g.61452173C>T | NCBI36 |
| NG_011931.1:g.15967G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1034G>A MANE Select | ENSP00000359285.4:p.Arg345His | |
| ENST00000370263.8:c.1034G>A | ENSP00000359285.4:p.Arg345His | |
| ENST00000463705.5:n.1682G>A | ||
| ENST00000467563.3:n.1104G>A | ||
| ENST00000498043.6:c.1058G>A | ||
| ENST00000615287.4:c.821G>A | ENSP00000483388.1:p.Arg274His | |
| ENST00000627000.1:c.*723G>A | ENSP00000486914.1:n.*723G>A | |
| ENST00000630240.1:n.755G>A | ||
| NM_000744.6:c.1034G>A | NP_000735.1:p.Arg345His | |
| NM_001256573.1:c.506G>A | NP_001243502.1:p.Arg169His | |
| NR_046317.1:n.1290G>A | ||
| XM_011528524.1:c.821G>A | XP_011526826.1:p.Arg274His | |
| XM_017027625.2:c.506G>A | XP_016883114.1:p.Arg169His | |
| XM_024451822.1:c.506G>A | XP_024307590.1:p.Arg169His | |
| NM_001256573.2:c.506G>A | NP_001243502.1:p.Arg169His | |
| NR_046317.2:n.1243G>A | ||
| NM_000744.7:c.1034G>A MANE Select | NP_000735.1:p.Arg345His |