Linked Data
ClinVar Variation Id:
393567
dbSNP Id:
rs398123166
ExAC:
1:241672081 G / A
gnomAD v2:
1-241672081-G-A
gnomAD v4:
1-241508781-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241508781G>A , CM000663.2:g.241508781G>A | GRCh38 |
| NC_000001.10:g.241672081G>A , CM000663.1:g.241672081G>A | GRCh37 |
| NC_000001.9:g.239738704G>A | NCBI36 |
| NG_012338.1:g.15974C>T , LRG_504:g.15974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1063C>T | ||
| ENST00000682162.1:c.589C>T | ENSP00000508203.1:n.589C>T | |
| ENST00000682567.1:n.637C>T | ||
| ENST00000683521.1:c.560C>T | ENSP00000506864.1:p.Ser187Leu | |
| ENST00000684161.1:n.1775C>T | ||
| ENST00000684483.1:c.556-21C>T | ENSP00000507894.1:n.556-21C>T | |
| ENST00000366560.4:c.560C>T MANE Select | ENSP00000355518.4:p.Ser187Leu | |
| ENST00000366560.3:c.560C>T | ENSP00000355518.3:p.Ser187Leu | |
| NM_000143.3:c.560C>T , LRG_504t1:c.560C>T | NP_000134.2:p.Ser187Leu | |
| XM_011544132.1:c.332C>T | XP_011542434.1:p.Ser111Leu | |
| XM_011544132.2:c.332C>T | XP_011542434.1:p.Ser111Leu | |
| NM_000143.4:c.560C>T MANE Select | NP_000134.2:p.Ser187Leu |