Linked Data
ClinVar Variation Id:
1302140
dbSNP Id:
rs200666489
gnomAD v2:
20-61981729-C-A
gnomAD v3:
20-63350377-C-A
gnomAD v4:
20-63350377-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350377C>A , CM000682.2:g.63350377C>A | GRCh38 |
| NC_000020.10:g.61981729C>A , CM000682.1:g.61981729C>A | GRCh37 |
| NC_000020.9:g.61452173C>A | NCBI36 |
| NG_011931.1:g.15967G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1034G>T MANE Select | ENSP00000359285.4:p.Arg345Leu | |
| ENST00000370263.8:c.1034G>T | ENSP00000359285.4:p.Arg345Leu | |
| ENST00000463705.5:n.1682G>T | ||
| ENST00000467563.3:n.1104G>T | ||
| ENST00000498043.6:c.1058G>T | ||
| ENST00000615287.4:c.821G>T | ENSP00000483388.1:p.Arg274Leu | |
| ENST00000627000.1:c.*723G>T | ENSP00000486914.1:n.*723G>T | |
| ENST00000630240.1:n.755G>T | ||
| NM_000744.6:c.1034G>T | NP_000735.1:p.Arg345Leu | |
| NM_001256573.1:c.506G>T | NP_001243502.1:p.Arg169Leu | |
| NR_046317.1:n.1290G>T | ||
| XM_011528524.1:c.821G>T | XP_011526826.1:p.Arg274Leu | |
| XM_017027625.2:c.506G>T | XP_016883114.1:p.Arg169Leu | |
| XM_024451822.1:c.506G>T | XP_024307590.1:p.Arg169Leu | |
| NM_001256573.2:c.506G>T | NP_001243502.1:p.Arg169Leu | |
| NR_046317.2:n.1243G>T | ||
| NM_000744.7:c.1034G>T MANE Select | NP_000735.1:p.Arg345Leu |