Linked Data
dbSNP Id:
rs996708043
gnomAD v2:
8-61773741-C-G
gnomAD v3:
8-60861182-C-G
gnomAD v4:
8-60861182-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60861182C>G , CM000670.2:g.60861182C>G | GRCh38 |
| NC_000008.10:g.61773741C>G , CM000670.1:g.61773741C>G | GRCh37 |
| NC_000008.9:g.61936295C>G | NCBI36 |
| NG_007009.1:g.187403C>G , LRG_176:g.187403C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.1006+57C>G | ||
| ENST00000695851.1:n.210+57C>G | ||
| ENST00000695853.1:c.*889+57C>G | ENSP00000512218.1:n.*889+57C>G | |
| ENST00000423902.7:c.7830+57C>G MANE Select | ENSP00000392028.1:n.7830+57C>G | |
| ENST00000423902.6:c.7830+57C>G | ENSP00000392028.1:n.7830+57C>G | |
| ENST00000524602.5:c.1717-1047C>G | ENSP00000437061.1:n.1717-1047C>G | |
| ENST00000531695.1:n.311C>G | ||
| ENST00000618450.1:n.279C>G | ||
| NM_001316690.1:c.1717-1047C>G | NP_001303619.1:n.1717-1047C>G | |
| NM_017780.3:c.7830+57C>G | NP_060250.2:n.7830+57C>G | |
| XM_011517553.1:c.7920+57C>G | XP_011515855.1:n.7920+57C>G | |
| XM_011517554.1:c.7920+57C>G | XP_011515856.1:n.7920+57C>G | |
| XM_011517555.1:c.7917+57C>G | XP_011515857.1:n.7917+57C>G | |
| XM_011517556.1:c.7699-1014C>G | XP_011515858.1:n.7699-1014C>G | |
| XM_011517557.1:c.5907+57C>G | XP_011515859.1:n.5907+57C>G | |
| XM_011517558.1:c.5457+57C>G | XP_011515860.1:n.5457+57C>G | |
| XM_011517559.1:c.4665+57C>G | XP_011515861.1:n.4665+57C>G | |
| XM_011517553.2:c.7920+57C>G | XP_011515855.1:n.7920+57C>G | |
| XM_011517554.3:c.7920+57C>G | XP_011515856.1:n.7920+57C>G | |
| XM_011517555.2:c.7917+57C>G | XP_011515857.1:n.7917+57C>G | |
| XM_017013612.1:c.7920+57C>G | XP_016869101.1:n.7920+57C>G | |
| XM_017013613.1:c.7827+57C>G | XP_016869102.1:n.7827+57C>G | |
| NM_017780.4:c.7830+57C>G MANE Select | NP_060250.2:n.7830+57C>G |