Linked Data
ClinVar Variation Id:
290412
dbSNP Id:
rs747083728
ExAC:
20:61982005 G / A
gnomAD v2:
20-61982005-G-A
gnomAD v3:
20-63350653-G-A
gnomAD v4:
20-63350653-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350653G>A , CM000682.2:g.63350653G>A | GRCh38 |
| NC_000020.10:g.61982005G>A , CM000682.1:g.61982005G>A | GRCh37 |
| NC_000020.9:g.61452449G>A | NCBI36 |
| NG_011931.1:g.15691C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.758C>T MANE Select | ENSP00000359285.4:p.Pro253Leu | |
| ENST00000370263.8:c.758C>T | ENSP00000359285.4:p.Pro253Leu | |
| ENST00000463705.5:n.1406C>T | ||
| ENST00000467563.3:n.828C>T | ||
| ENST00000498043.6:c.782C>T | ||
| ENST00000615287.4:c.545C>T | ENSP00000483388.1:p.Pro182Leu | |
| ENST00000627000.1:c.*447C>T | ENSP00000486914.1:n.*447C>T | |
| ENST00000630240.1:n.479C>T | ||
| NM_000744.6:c.758C>T | NP_000735.1:p.Pro253Leu | |
| NM_001256573.1:c.230C>T | NP_001243502.1:p.Pro77Leu | |
| NR_046317.1:n.1014C>T | ||
| XM_011528524.1:c.545C>T | XP_011526826.1:p.Pro182Leu | |
| XM_017027625.2:c.230C>T | XP_016883114.1:p.Pro77Leu | |
| XM_024451822.1:c.230C>T | XP_024307590.1:p.Pro77Leu | |
| NM_001256573.2:c.230C>T | NP_001243502.1:p.Pro77Leu | |
| NR_046317.2:n.967C>T | ||
| NM_000744.7:c.758C>T MANE Select | NP_000735.1:p.Pro253Leu |