Linked Data
dbSNP Id:
rs1004695612
gnomAD v2:
8-100788977-C-G
gnomAD v3:
8-99776749-C-G
gnomAD v4:
8-99776749-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99776749C>G , CM000670.2:g.99776749C>G | GRCh38 |
| NC_000008.10:g.100788977C>G , CM000670.1:g.100788977C>G | GRCh37 |
| NC_000008.9:g.100858153C>G | NCBI36 |
| NG_007098.2:g.768484C>G , LRG_351:g.768484C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.7323-26C>G | ENSP00000507923.1:n.7323-26C>G | |
| ENST00000682358.1:n.7393-26C>G | ||
| ENST00000683334.1:c.*3005-26C>G | ENSP00000507369.1:n.*3005-26C>G | |
| ENST00000357162.7:c.7248-26C>G MANE Select | ENSP00000349685.2:n.7248-26C>G | |
| ENST00000358544.7:c.7323-26C>G MANE Plus Clinical | ENSP00000351346.2:n.7323-26C>G | |
| ENST00000357162.6:c.7248-26C>G | ENSP00000349685.2:n.7248-26C>G | |
| ENST00000358544.6:c.7323-26C>G | ENSP00000351346.2:n.7323-26C>G | |
| ENST00000518569.1:n.378-1933C>G | ||
| NM_017890.4:c.7323-26C>G , LRG_351t1:c.7323-26C>G | NP_060360.3:n.7323-26C>G | |
| NM_152564.4:c.7248-26C>G , LRG_351t2:c.7248-26C>G | NP_689777.3:n.7248-26C>G | |
| XM_005250800.2:c.7323-26C>G | XP_005250857.1:n.7323-26C>G | |
| XM_005250801.3:c.7323-26C>G | XP_005250858.1:n.7323-26C>G | |
| XM_011516848.1:c.7320-26C>G | XP_011515150.1:n.7320-26C>G | |
| XM_011516849.1:c.7245-26C>G | XP_011515151.1:n.7245-26C>G | |
| XM_011516850.1:c.6945-26C>G | XP_011515152.1:n.6945-26C>G | |
| XM_011516851.1:c.4209-26C>G | XP_011515153.1:n.4209-26C>G | |
| XM_011516852.1:c.4209-26C>G | XP_011515154.1:n.4209-26C>G | |
| XM_011516853.1:c.7323-26C>G | XP_011515155.1:n.7323-26C>G | |
| XM_011516854.1:c.3102-26C>G | XP_011515156.1:n.3102-26C>G | |
| XR_928446.1:n.1830+5729G>C | ||
| XM_005250800.3:c.7323-26C>G | XP_005250857.1:n.7323-26C>G | |
| XM_005250801.5:c.7323-26C>G | XP_005250858.1:n.7323-26C>G | |
| XM_011516848.2:c.7320-26C>G | XP_011515150.1:n.7320-26C>G | |
| XM_011516849.2:c.7245-26C>G | XP_011515151.1:n.7245-26C>G | |
| XM_011516850.2:c.6945-26C>G | XP_011515152.1:n.6945-26C>G | |
| XM_011516851.2:c.4209-26C>G | XP_011515153.1:n.4209-26C>G | |
| XM_011516852.2:c.4209-26C>G | XP_011515154.1:n.4209-26C>G | |
| XM_011516853.2:c.7323-26C>G | XP_011515155.1:n.7323-26C>G | |
| XM_011516854.2:c.3102-26C>G | XP_011515156.1:n.3102-26C>G | |
| XM_017013109.1:c.7128-26C>G | XP_016868598.1:n.7128-26C>G | |
| XM_017013111.1:c.4209-26C>G | XP_016868600.1:n.4209-26C>G | |
| XM_017013112.1:c.2880-26C>G | XP_016868601.1:n.2880-26C>G | |
| XM_024447074.1:c.6108-26C>G | XP_024302842.1:n.6108-26C>G | |
| NM_017890.5:c.7323-26C>G MANE Plus Clinical | NP_060360.3:n.7323-26C>G | |
| NM_152564.5:c.7248-26C>G MANE Select | NP_689777.3:n.7248-26C>G |