Linked Data
ClinVar Variation Id:
128205
ClinVar RCV Id:
RCV000116174
RCV000200995
RCV000123374
RCV000663261
RCV004529955
RCV003330081
RCV001818287
dbSNP Id:
rs587780255
ExAC:
17:56774077 A / G
gnomAD v2:
17-56774077-A-G
gnomAD v3:
17-58696716-A-G
gnomAD v4:
17-58696716-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58696716A>G , CM000679.2:g.58696716A>G | GRCh38 |
| NC_000017.10:g.56774077A>G , CM000679.1:g.56774077A>G | GRCh37 |
| NC_000017.9:g.54129076A>G | NCBI36 |
| NG_023199.1:g.9115A>G , LRG_314:g.9115A>G | |
| NG_047169.1:g.364T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.77A>G | ENSP00000464056.2:p.Gln26Arg | |
| ENST00000697675.1:n.3025A>G | ||
| ENST00000697676.1:n.488A>G | ||
| ENST00000697677.1:n.1509A>G | ||
| ENST00000697678.1:n.330A>G | ||
| ENST00000697679.1:n.1502A>G | ||
| ENST00000697680.1:c.*1292A>G | ENSP00000513392.1:n.*1292A>G | |
| ENST00000697681.1:c.*1319A>G | ENSP00000513393.1:n.*1319A>G | |
| ENST00000697683.1:c.*1292A>G | ENSP00000513395.1:n.*1292A>G | |
| ENST00000697684.1:n.488A>G | ||
| ENST00000697685.1:c.*1268+1527A>G | ENSP00000513396.1:n.*1268+1527A>G | |
| ENST00000697686.1:c.77A>G | ENSP00000513397.1:p.Gln26Arg | |
| ENST00000697687.1:n.450+1527A>G | ||
| ENST00000697688.1:n.474A>G | ||
| ENST00000697689.1:c.*1107+1527A>G | ENSP00000513398.1:n.*1107+1527A>G | |
| ENST00000697690.1:c.428A>G | ENSP00000513399.1:p.Gln143Arg | |
| ENST00000697691.1:c.*400A>G | ENSP00000513400.1:n.*400A>G | |
| ENST00000697692.1:c.*440A>G | ENSP00000513401.1:n.*440A>G | |
| ENST00000697694.1:c.77A>G | ENSP00000513402.1:p.Gln26Arg | |
| ENST00000697695.1:n.1035A>G | ||
| ENST00000337432.9:c.428A>G MANE Select | ENSP00000336701.4:p.Gln143Arg | |
| ENST00000337432.8:c.428A>G | ENSP00000336701.4:p.Gln143Arg | |
| ENST00000413590.5:c.66A>G | ||
| ENST00000425173.5:c.224A>G | ENSP00000407282.1:p.Gln75Arg | |
| ENST00000461271.5:c.77A>G | ENSP00000464056.1:p.Gln26Arg | |
| ENST00000475762.5:c.*1131A>G | ENSP00000432421.1:n.*1131A>G | |
| ENST00000482007.5:c.404+1527A>G | ENSP00000433332.1:n.404+1527A>G | |
| ENST00000487525.5:c.404+1527A>G | ENSP00000431637.1:n.404+1527A>G | |
| ENST00000487921.5:n.340A>G | ||
| ENST00000583539.5:c.428A>G | ENSP00000463121.1:p.Gln143Arg | |
| ENST00000584617.5:c.150A>G | ||
| ENST00000622327.4:c.164A>G | ENSP00000482326.1:p.Gln55Arg | |
| NM_058216.2:c.428A>G | NP_478123.1:p.Gln143Arg | |
| NR_103872.1:n.475+1527A>G | ||
| XM_006722001.2:c.428A>G | XP_006722064.1:p.Gln143Arg | |
| XM_006722002.2:c.428A>G | XP_006722065.1:p.Gln143Arg | |
| XM_006722004.2:c.77A>G | XP_006722067.1:p.Gln26Arg | |
| XM_006722005.2:c.77A>G | XP_006722068.1:p.Gln26Arg | |
| XM_011525092.1:c.77A>G | XP_011523394.1:p.Gln26Arg | |
| XM_011525093.1:c.77A>G | XP_011523395.1:p.Gln26Arg | |
| XM_011525094.1:c.77A>G | XP_011523396.1:p.Gln26Arg | |
| XR_934513.1:n.501A>G | ||
| XR_934514.1:n.501A>G | ||
| XM_006722001.4:c.428A>G | XP_006722064.1:p.Gln143Arg | |
| XM_006722002.4:c.428A>G | XP_006722065.1:p.Gln143Arg | |
| XM_006722004.3:c.77A>G | XP_006722067.1:p.Gln26Arg | |
| XM_006722005.3:c.77A>G | XP_006722068.1:p.Gln26Arg | |
| XM_011525092.2:c.77A>G | XP_011523394.1:p.Gln26Arg | |
| XM_011525093.2:c.77A>G | XP_011523395.1:p.Gln26Arg | |
| XM_011525094.2:c.77A>G | XP_011523396.1:p.Gln26Arg | |
| XM_017024914.1:c.77A>G | XP_016880403.1:p.Gln26Arg | |
| XM_017024915.1:c.77A>G | XP_016880404.1:p.Gln26Arg | |
| XM_017024916.1:c.77A>G | XP_016880405.1:p.Gln26Arg | |
| XM_017024917.1:c.77A>G | XP_016880406.1:p.Gln26Arg | |
| XM_017024918.2:c.77A>G | XP_016880407.1:p.Gln26Arg | |
| XM_017024919.1:c.77A>G | XP_016880408.1:p.Gln26Arg | |
| XR_934513.3:n.932A>G | ||
| XR_934514.3:n.932A>G | ||
| NM_058216.3:c.428A>G MANE Select | NP_478123.1:p.Gln143Arg | |
| NR_103872.2:n.446+1527A>G |