Linked Data
ClinVar Variation Id:
1159653
ClinVar RCV Id:
RCV001503463
dbSNP Id:
rs2123472082
MyVariant Identifiers:
chr20:g.61981862G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350510G>A , CM000682.2:g.63350510G>A | GRCh38 |
| NC_000020.10:g.61981862G>A , CM000682.1:g.61981862G>A | GRCh37 |
| NC_000020.9:g.61452306G>A | NCBI36 |
| NG_011931.1:g.15834C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.901C>T MANE Select | ENSP00000359285.4:p.Leu301= | |
| ENST00000370263.8:c.901C>T | ENSP00000359285.4:p.Leu301= | |
| ENST00000463705.5:n.1549C>T | ||
| ENST00000467563.3:n.971C>T | ||
| ENST00000498043.6:c.925C>T | ||
| ENST00000615287.4:c.688C>T | ENSP00000483388.1:p.Leu230= | |
| ENST00000627000.1:c.*590C>T | ENSP00000486914.1:n.*590C>T | |
| ENST00000630240.1:n.622C>T | ||
| NM_000744.6:c.901C>T | NP_000735.1:p.Leu301= | |
| NM_001256573.1:c.373C>T | NP_001243502.1:p.Leu125= | |
| NR_046317.1:n.1157C>T | ||
| XM_011528524.1:c.688C>T | XP_011526826.1:p.Leu230= | |
| XM_017027625.2:c.373C>T | XP_016883114.1:p.Leu125= | |
| XM_024451822.1:c.373C>T | XP_024307590.1:p.Leu125= | |
| NM_001256573.2:c.373C>T | NP_001243502.1:p.Leu125= | |
| NR_046317.2:n.1110C>T | ||
| NM_000744.7:c.901C>T MANE Select | NP_000735.1:p.Leu301= |