Linked Data
ClinVar Variation Id:
381365
dbSNP Id:
rs376465837
gnomAD v2:
17-56772566-C-G
gnomAD v3:
17-58695205-C-G
gnomAD v4:
17-58695205-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58695205C>G , CM000679.2:g.58695205C>G | GRCh38 |
| NC_000017.10:g.56772566C>G , CM000679.1:g.56772566C>G | GRCh37 |
| NC_000017.9:g.54127565C>G | NCBI36 |
| NG_023199.1:g.7604C>G , LRG_314:g.7604C>G | |
| NG_047169.1:g.1875G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.53+16C>G | ENSP00000464056.2:n.53+16C>G | |
| ENST00000697675.1:n.1514C>G | ||
| ENST00000697676.1:n.464+16C>G | ||
| ENST00000697677.1:n.1485+16C>G | ||
| ENST00000697678.1:n.306+16C>G | ||
| ENST00000697679.1:n.1478+16C>G | ||
| ENST00000697680.1:c.*1268+16C>G | ENSP00000513392.1:n.*1268+16C>G | |
| ENST00000697681.1:c.*1284C>G | ENSP00000513393.1:n.*1284C>G | |
| ENST00000697683.1:c.*1268+16C>G | ENSP00000513395.1:n.*1268+16C>G | |
| ENST00000697684.1:n.464+16C>G | ||
| ENST00000697685.1:c.*1268+16C>G | ENSP00000513396.1:n.*1268+16C>G | |
| ENST00000697686.1:c.53+16C>G | ENSP00000513397.1:n.53+16C>G | |
| ENST00000697687.1:n.450+16C>G | ||
| ENST00000697688.1:n.450+16C>G | ||
| ENST00000697689.1:c.*1107+16C>G | ENSP00000513398.1:n.*1107+16C>G | |
| ENST00000697690.1:c.404+16C>G | ENSP00000513399.1:n.404+16C>G | |
| ENST00000697691.1:c.*376+16C>G | ENSP00000513400.1:n.*376+16C>G | |
| ENST00000697692.1:c.*416+16C>G | ENSP00000513401.1:n.*416+16C>G | |
| ENST00000697693.1:n.1195C>G | ||
| ENST00000697694.1:c.53+16C>G | ENSP00000513402.1:n.53+16C>G | |
| ENST00000697695.1:n.1011+16C>G | ||
| ENST00000337432.9:c.404+16C>G MANE Select | ENSP00000336701.4:n.404+16C>G | |
| ENST00000337432.8:c.404+16C>G | ENSP00000336701.4:n.404+16C>G | |
| ENST00000413590.5:c.42+16C>G | ||
| ENST00000421782.3:c.*12C>G | ENSP00000391450.2:n.*12C>G | |
| ENST00000425173.5:c.200+16C>G | ENSP00000407282.1:n.200+16C>G | |
| ENST00000461271.5:c.53+16C>G | ENSP00000464056.1:n.53+16C>G | |
| ENST00000475762.5:c.*1107+16C>G | ENSP00000432421.1:n.*1107+16C>G | |
| ENST00000482007.5:c.404+16C>G | ENSP00000433332.1:n.404+16C>G | |
| ENST00000486827.1:c.*1284C>G | ENSP00000436761.1:n.*1284C>G | |
| ENST00000487525.5:c.404+16C>G | ENSP00000431637.1:n.404+16C>G | |
| ENST00000487921.5:n.316+16C>G | ||
| ENST00000583539.5:c.404+16C>G | ENSP00000463121.1:n.404+16C>G | |
| ENST00000584617.5:c.127-1488C>G | ||
| ENST00000622327.4:c.140+16C>G | ENSP00000482326.1:n.140+16C>G | |
| NM_002876.3:c.*12C>G | NP_002867.1:n.*12C>G | |
| NM_058216.2:c.404+16C>G | NP_478123.1:n.404+16C>G | |
| NR_103872.1:n.475+16C>G | ||
| NR_103873.1:n.388C>G | ||
| XM_006722001.2:c.404+16C>G | XP_006722064.1:n.404+16C>G | |
| XM_006722002.2:c.404+16C>G | XP_006722065.1:n.404+16C>G | |
| XM_006722004.2:c.53+16C>G | XP_006722067.1:n.53+16C>G | |
| XM_006722005.2:c.53+16C>G | XP_006722068.1:n.53+16C>G | |
| XM_011525092.1:c.53+16C>G | XP_011523394.1:n.53+16C>G | |
| XM_011525093.1:c.53+16C>G | XP_011523395.1:n.53+16C>G | |
| XM_011525094.1:c.53+16C>G | XP_011523396.1:n.53+16C>G | |
| XR_934513.1:n.477+16C>G | ||
| XR_934514.1:n.477+16C>G | ||
| XM_006722001.4:c.404+16C>G | XP_006722064.1:n.404+16C>G | |
| XM_006722002.4:c.404+16C>G | XP_006722065.1:n.404+16C>G | |
| XM_006722004.3:c.53+16C>G | XP_006722067.1:n.53+16C>G | |
| XM_006722005.3:c.53+16C>G | XP_006722068.1:n.53+16C>G | |
| XM_011525092.2:c.53+16C>G | XP_011523394.1:n.53+16C>G | |
| XM_011525093.2:c.53+16C>G | XP_011523395.1:n.53+16C>G | |
| XM_011525094.2:c.53+16C>G | XP_011523396.1:n.53+16C>G | |
| XM_017024914.1:c.53+16C>G | XP_016880403.1:n.53+16C>G | |
| XM_017024915.1:c.53+16C>G | XP_016880404.1:n.53+16C>G | |
| XM_017024916.1:c.53+16C>G | XP_016880405.1:n.53+16C>G | |
| XM_017024917.1:c.53+16C>G | XP_016880406.1:n.53+16C>G | |
| XM_017024918.2:c.53+16C>G | XP_016880407.1:n.53+16C>G | |
| XM_017024919.1:c.53+16C>G | XP_016880408.1:n.53+16C>G | |
| XR_934513.3:n.908+16C>G | ||
| XR_934514.3:n.908+16C>G | ||
| NM_058216.3:c.404+16C>G MANE Select | NP_478123.1:n.404+16C>G | |
| NR_103872.2:n.446+16C>G | ||
| NM_002876.4:c.*12C>G | NP_002867.1:n.*12C>G |