Linked Data
dbSNP Id:
rs539561152
ExAC:
18:22056886 C / T
gnomAD v2:
18-22056886-C-T
gnomAD v3:
18-24476922-C-T
gnomAD v4:
18-24476922-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24476922C>T , CM000680.2:g.24476922C>T | GRCh38 |
| NC_000018.9:g.22056886C>T , CM000680.1:g.22056886C>T | GRCh37 |
| NC_000018.8:g.20310884C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.533C>T MANE Select | ENSP00000256906.4:p.Thr178Ile | |
| ENST00000256906.4:c.533C>T | ENSP00000256906.4:p.Thr178Ile | |
| ENST00000426880.2:c.269C>T | ENSP00000402526.2:p.Thr90Ile | |
| NM_001143828.1:c.269C>T | NP_001137300.1:p.Thr90Ile | |
| NM_001160166.1:c.*165C>T | NP_001153638.1:n.*165C>T | |
| NM_021624.3:c.533C>T | NP_067637.2:p.Thr178Ile | |
| XM_011526133.1:c.357+7971C>T | XP_011524435.1:n.357+7971C>T | |
| NM_021624.4:c.533C>T MANE Select | NP_067637.2:p.Thr178Ile | |
| NM_001143828.2:c.269C>T | NP_001137300.1:p.Thr90Ile | |
| NM_001160166.2:c.*165C>T | NP_001153638.1:n.*165C>T |