Linked Data
ClinVar Variation Id:
93428
dbSNP Id:
rs1044397
ExAC:
20:61981104 C / T
gnomAD v2:
20-61981104-C-T
gnomAD v3:
20-63349752-C-T
gnomAD v4:
20-63349752-C-T
PubMed:
PMID:15154117
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63349752C>T , CM000682.2:g.63349752C>T | GRCh38 |
| NC_000020.10:g.61981104C>T , CM000682.1:g.61981104C>T | GRCh37 |
| NC_000020.9:g.61451548C>T | NCBI36 |
| NG_011931.1:g.16592G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370263.9:c.1659G>A MANE Select | ENSP00000359285.4:p.Ala553= | |
| ENST00000370263.8:c.1659G>A | ENSP00000359285.4:p.Ala553= | |
| ENST00000463705.5:n.2307G>A | ||
| ENST00000467563.3:n.1729G>A | ||
| ENST00000498043.6:c.1683G>A | ||
| ENST00000615287.4:c.1446G>A | ENSP00000483388.1:p.Ala482= | |
| ENST00000627000.1:c.*1348G>A | ENSP00000486914.1:n.*1348G>A | |
| ENST00000630240.1:n.1380G>A | ||
| NM_000744.6:c.1659G>A | NP_000735.1:p.Ala553= | |
| NM_001256573.1:c.1131G>A | NP_001243502.1:p.Ala377= | |
| NR_046317.1:n.1915G>A | ||
| XM_011528524.1:c.1446G>A | XP_011526826.1:p.Ala482= | |
| XM_017027625.2:c.1131G>A | XP_016883114.1:p.Ala377= | |
| XM_024451822.1:c.1131G>A | XP_024307590.1:p.Ala377= | |
| NM_001256573.2:c.1131G>A | NP_001243502.1:p.Ala377= | |
| NR_046317.2:n.1868G>A | ||
| NM_000744.7:c.1659G>A MANE Select | NP_000735.1:p.Ala553= |