Linked Data
ClinVar Variation Id:
409836
dbSNP Id:
rs142058115
ExAC:
17:56772519 G / A
gnomAD v2:
17-56772519-G-A
gnomAD v4:
17-58695158-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58695158G>A , CM000679.2:g.58695158G>A | GRCh38 |
| NC_000017.10:g.56772519G>A , CM000679.1:g.56772519G>A | GRCh37 |
| NC_000017.9:g.54127518G>A | NCBI36 |
| NG_023199.1:g.7557G>A , LRG_314:g.7557G>A | |
| NG_047169.1:g.1922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.22G>A | ENSP00000464056.2:p.Gly8Ser | |
| ENST00000697675.1:n.1467G>A | ||
| ENST00000697676.1:n.433G>A | ||
| ENST00000697677.1:n.1454G>A | ||
| ENST00000697678.1:n.275G>A | ||
| ENST00000697679.1:n.1447G>A | ||
| ENST00000697680.1:c.*1237G>A | ENSP00000513392.1:n.*1237G>A | |
| ENST00000697681.1:c.*1237G>A | ENSP00000513393.1:n.*1237G>A | |
| ENST00000697683.1:c.*1237G>A | ENSP00000513395.1:n.*1237G>A | |
| ENST00000697684.1:n.433G>A | ||
| ENST00000697685.1:c.*1237G>A | ENSP00000513396.1:n.*1237G>A | |
| ENST00000697686.1:c.22G>A | ENSP00000513397.1:p.Gly8Ser | |
| ENST00000697687.1:n.419G>A | ||
| ENST00000697688.1:n.419G>A | ||
| ENST00000697689.1:c.*1076G>A | ENSP00000513398.1:n.*1076G>A | |
| ENST00000697690.1:c.373G>A | ENSP00000513399.1:p.Gly125Ser | |
| ENST00000697691.1:c.*345G>A | ENSP00000513400.1:n.*345G>A | |
| ENST00000697692.1:c.*385G>A | ENSP00000513401.1:n.*385G>A | |
| ENST00000697693.1:n.1148G>A | ||
| ENST00000697694.1:c.22G>A | ENSP00000513402.1:p.Gly8Ser | |
| ENST00000697695.1:n.980G>A | ||
| ENST00000337432.9:c.373G>A MANE Select | ENSP00000336701.4:p.Gly125Ser | |
| ENST00000337432.8:c.373G>A | ENSP00000336701.4:p.Gly125Ser | |
| ENST00000413590.5:c.11G>A | ||
| ENST00000421782.3:c.373G>A | ENSP00000391450.2:p.Gly125Ser | |
| ENST00000425173.5:c.169G>A | ENSP00000407282.1:p.Gly57Ser | |
| ENST00000461271.5:c.22G>A | ENSP00000464056.1:p.Gly8Ser | |
| ENST00000475762.5:c.*1076G>A | ENSP00000432421.1:n.*1076G>A | |
| ENST00000482007.5:c.373G>A | ENSP00000433332.1:p.Gly125Ser | |
| ENST00000486827.1:c.*1237G>A | ENSP00000436761.1:n.*1237G>A | |
| ENST00000487525.5:c.373G>A | ENSP00000431637.1:p.Gly125Ser | |
| ENST00000487921.5:n.285G>A | ||
| ENST00000583539.5:c.373G>A | ENSP00000463121.1:p.Gly125Ser | |
| ENST00000584617.5:c.127-1535G>A | ||
| ENST00000622327.4:c.109G>A | ENSP00000482326.1:p.Gly37Ser | |
| NM_002876.3:c.373G>A | NP_002867.1:p.Gly125Ser | |
| NM_058216.2:c.373G>A | NP_478123.1:p.Gly125Ser | |
| NR_103872.1:n.444G>A | ||
| NR_103873.1:n.341G>A | ||
| XM_006722001.2:c.373G>A | XP_006722064.1:p.Gly125Ser | |
| XM_006722002.2:c.373G>A | XP_006722065.1:p.Gly125Ser | |
| XM_006722004.2:c.22G>A | XP_006722067.1:p.Gly8Ser | |
| XM_006722005.2:c.22G>A | XP_006722068.1:p.Gly8Ser | |
| XM_011525092.1:c.22G>A | XP_011523394.1:p.Gly8Ser | |
| XM_011525093.1:c.22G>A | XP_011523395.1:p.Gly8Ser | |
| XM_011525094.1:c.22G>A | XP_011523396.1:p.Gly8Ser | |
| XR_934513.1:n.446G>A | ||
| XR_934514.1:n.446G>A | ||
| XM_006722001.4:c.373G>A | XP_006722064.1:p.Gly125Ser | |
| XM_006722002.4:c.373G>A | XP_006722065.1:p.Gly125Ser | |
| XM_006722004.3:c.22G>A | XP_006722067.1:p.Gly8Ser | |
| XM_006722005.3:c.22G>A | XP_006722068.1:p.Gly8Ser | |
| XM_011525092.2:c.22G>A | XP_011523394.1:p.Gly8Ser | |
| XM_011525093.2:c.22G>A | XP_011523395.1:p.Gly8Ser | |
| XM_011525094.2:c.22G>A | XP_011523396.1:p.Gly8Ser | |
| XM_017024914.1:c.22G>A | XP_016880403.1:p.Gly8Ser | |
| XM_017024915.1:c.22G>A | XP_016880404.1:p.Gly8Ser | |
| XM_017024916.1:c.22G>A | XP_016880405.1:p.Gly8Ser | |
| XM_017024917.1:c.22G>A | XP_016880406.1:p.Gly8Ser | |
| XM_017024918.2:c.22G>A | XP_016880407.1:p.Gly8Ser | |
| XM_017024919.1:c.22G>A | XP_016880408.1:p.Gly8Ser | |
| XR_934513.3:n.877G>A | ||
| XR_934514.3:n.877G>A | ||
| NM_058216.3:c.373G>A MANE Select | NP_478123.1:p.Gly125Ser | |
| NR_103872.2:n.415G>A | ||
| NM_002876.4:c.373G>A | NP_002867.1:p.Gly125Ser |