Linked Data
ClinVar Variation Id:
93427
dbSNP Id:
rs1044396
ExAC:
20:61981134 G / A
gnomAD v2:
20-61981134-G-A
gnomAD v3:
20-63349782-G-A
gnomAD v4:
20-63349782-G-A
PubMed:
PMID:15154117
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63349782G>A , CM000682.2:g.63349782G>A | GRCh38 |
| NC_000020.10:g.61981134G>A , CM000682.1:g.61981134G>A | GRCh37 |
| NC_000020.9:g.61451578G>A | NCBI36 |
| NG_011931.1:g.16562C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370263.9:c.1629C>T MANE Select | ENSP00000359285.4:p.Ser543= | |
| ENST00000370263.8:c.1629C>T | ENSP00000359285.4:p.Ser543= | |
| ENST00000463705.5:n.2277C>T | ||
| ENST00000467563.3:n.1699C>T | ||
| ENST00000498043.6:c.1653C>T | ||
| ENST00000615287.4:c.1416C>T | ENSP00000483388.1:p.Ser472= | |
| ENST00000627000.1:c.*1318C>T | ENSP00000486914.1:n.*1318C>T | |
| ENST00000630240.1:n.1350C>T | ||
| NM_000744.6:c.1629C>T | NP_000735.1:p.Ser543= | |
| NM_001256573.1:c.1101C>T | NP_001243502.1:p.Ser367= | |
| NR_046317.1:n.1885C>T | ||
| XM_011528524.1:c.1416C>T | XP_011526826.1:p.Ser472= | |
| XM_017027625.2:c.1101C>T | XP_016883114.1:p.Ser367= | |
| XM_024451822.1:c.1101C>T | XP_024307590.1:p.Ser367= | |
| NM_001256573.2:c.1101C>T | NP_001243502.1:p.Ser367= | |
| NR_046317.2:n.1838C>T | ||
| NM_000744.7:c.1629C>T MANE Select | NP_000735.1:p.Ser543= |