Linked Data
ClinVar Variation Id:
142919
dbSNP Id:
rs587782818
ExAC:
17:56780686 C / G
gnomAD v2:
17-56780686-C-G
gnomAD v3:
17-58703325-C-G
gnomAD v4:
17-58703325-C-G
MyVariant Identifiers:
chr17:g.56780686C>G (hg19)
chr17:g.56780686_56780688delinsGAA (hg19)
chr17:g.58703325C>G (hg38)
PubMed:
PMID:24800917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58703325C>G , CM000679.2:g.58703325C>G | GRCh38 |
| NC_000017.10:g.56780686C>G , CM000679.1:g.56780686C>G | GRCh37 |
| NC_000017.9:g.54135685C>G | NCBI36 |
| NG_023199.1:g.15724C>G , LRG_314:g.15724C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.350C>G | ENSP00000464056.2:p.Ser117Ter | |
| ENST00000697677.1:n.1782C>G | ||
| ENST00000697678.1:n.603C>G | ||
| ENST00000697679.1:n.1775C>G | ||
| ENST00000697680.1:c.*1565C>G | ENSP00000513392.1:n.*1565C>G | |
| ENST00000697681.1:c.*1717C>G | ENSP00000513393.1:n.*1717C>G | |
| ENST00000697683.1:c.*1565C>G | ENSP00000513395.1:n.*1565C>G | |
| ENST00000697684.1:n.761C>G | ||
| ENST00000697685.1:c.*1398C>G | ENSP00000513396.1:n.*1398C>G | |
| ENST00000697686.1:c.350C>G | ENSP00000513397.1:p.Ser117Ter | |
| ENST00000697687.1:n.580C>G | ||
| ENST00000697688.1:n.747C>G | ||
| ENST00000697689.1:c.*1237C>G | ENSP00000513398.1:n.*1237C>G | |
| ENST00000697690.1:c.701C>G | ENSP00000513399.1:p.Ser234Ter | |
| ENST00000697691.1:c.*673C>G | ENSP00000513400.1:n.*673C>G | |
| ENST00000697692.1:c.*713C>G | ENSP00000513401.1:n.*713C>G | |
| ENST00000697694.1:c.350C>G | ENSP00000513402.1:p.Ser117Ter | |
| ENST00000697695.1:n.1308C>G | ||
| ENST00000337432.9:c.701C>G MANE Select | ENSP00000336701.4:p.Ser234Ter | |
| ENST00000337432.8:c.701C>G | ENSP00000336701.4:p.Ser234Ter | |
| ENST00000413590.5:c.339C>G | ||
| ENST00000425173.5:c.497C>G | ENSP00000407282.1:p.Ser166Ter | |
| ENST00000461271.5:c.350C>G | ENSP00000464056.1:p.Ser117Ter | |
| ENST00000475762.5:c.*1404C>G | ENSP00000432421.1:n.*1404C>G | |
| ENST00000482007.5:c.*129C>G | ENSP00000433332.1:n.*129C>G | |
| ENST00000487525.5:c.*129C>G | ENSP00000431637.1:n.*129C>G | |
| ENST00000487921.5:n.613C>G | ||
| ENST00000583539.5:c.701C>G | ENSP00000463121.1:p.Ser234Ter | |
| ENST00000584617.5:c.423C>G | ||
| NM_058216.2:c.701C>G | NP_478123.1:p.Ser234Ter | |
| NR_103872.1:n.605C>G | ||
| XM_006722001.2:c.701C>G | XP_006722064.1:p.Ser234Ter | |
| XM_006722002.2:c.701C>G | XP_006722065.1:p.Ser234Ter | |
| XM_006722004.2:c.350C>G | XP_006722067.1:p.Ser117Ter | |
| XM_006722005.2:c.350C>G | XP_006722068.1:p.Ser117Ter | |
| XM_011525092.1:c.350C>G | XP_011523394.1:p.Ser117Ter | |
| XM_011525093.1:c.350C>G | XP_011523395.1:p.Ser117Ter | |
| XM_011525094.1:c.350C>G | XP_011523396.1:p.Ser117Ter | |
| XR_934513.1:n.774C>G | ||
| XR_934514.1:n.774C>G | ||
| XM_006722001.4:c.701C>G | XP_006722064.1:p.Ser234Ter | |
| XM_006722002.4:c.701C>G | XP_006722065.1:p.Ser234Ter | |
| XM_006722004.3:c.350C>G | XP_006722067.1:p.Ser117Ter | |
| XM_006722005.3:c.350C>G | XP_006722068.1:p.Ser117Ter | |
| XM_011525092.2:c.350C>G | XP_011523394.1:p.Ser117Ter | |
| XM_011525093.2:c.350C>G | XP_011523395.1:p.Ser117Ter | |
| XM_011525094.2:c.350C>G | XP_011523396.1:p.Ser117Ter | |
| XM_017024914.1:c.350C>G | XP_016880403.1:p.Ser117Ter | |
| XM_017024915.1:c.350C>G | XP_016880404.1:p.Ser117Ter | |
| XM_017024916.1:c.350C>G | XP_016880405.1:p.Ser117Ter | |
| XM_017024917.1:c.350C>G | XP_016880406.1:p.Ser117Ter | |
| XM_017024918.2:c.350C>G | XP_016880407.1:p.Ser117Ter | |
| XM_017024919.1:c.350C>G | XP_016880408.1:p.Ser117Ter | |
| XR_934513.3:n.1205C>G | ||
| XR_934514.3:n.1205C>G | ||
| NM_058216.3:c.701C>G MANE Select | NP_478123.1:p.Ser234Ter | |
| NR_103872.2:n.576C>G |