Linked Data
ClinVar Variation Id:
955681
ClinVar RCV Id:
RCV001228365
dbSNP Id:
rs79438238
ExAC:
20:61981111 G / A
gnomAD v2:
20-61981111-G-A
gnomAD v4:
20-63349759-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63349759G>A , CM000682.2:g.63349759G>A | GRCh38 |
| NC_000020.10:g.61981111G>A , CM000682.1:g.61981111G>A | GRCh37 |
| NC_000020.9:g.61451555G>A | NCBI36 |
| NG_011931.1:g.16585C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370263.9:c.1652C>T MANE Select | ENSP00000359285.4:p.Thr551Ile | |
| ENST00000370263.8:c.1652C>T | ENSP00000359285.4:p.Thr551Ile | |
| ENST00000463705.5:n.2300C>T | ||
| ENST00000467563.3:n.1722C>T | ||
| ENST00000498043.6:c.1676C>T | ||
| ENST00000615287.4:c.1439C>T | ENSP00000483388.1:p.Thr480Ile | |
| ENST00000627000.1:c.*1341C>T | ENSP00000486914.1:n.*1341C>T | |
| ENST00000630240.1:n.1373C>T | ||
| NM_000744.6:c.1652C>T | NP_000735.1:p.Thr551Ile | |
| NM_001256573.1:c.1124C>T | NP_001243502.1:p.Thr375Ile | |
| NR_046317.1:n.1908C>T | ||
| XM_011528524.1:c.1439C>T | XP_011526826.1:p.Thr480Ile | |
| XM_017027625.2:c.1124C>T | XP_016883114.1:p.Thr375Ile | |
| XM_024451822.1:c.1124C>T | XP_024307590.1:p.Thr375Ile | |
| NM_001256573.2:c.1124C>T | NP_001243502.1:p.Thr375Ile | |
| NR_046317.2:n.1861C>T | ||
| NM_000744.7:c.1652C>T MANE Select | NP_000735.1:p.Thr551Ile |