Linked Data
dbSNP Id:
rs368238226
ExAC:
8:100880471 G / A
gnomAD v2:
8-100880471-G-A
gnomAD v3:
8-99868243-G-A
gnomAD v4:
8-99868243-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99868243G>A , CM000670.2:g.99868243G>A | GRCh38 |
| NC_000008.10:g.100880471G>A , CM000670.1:g.100880471G>A | GRCh37 |
| NC_000008.9:g.100949647G>A | NCBI36 |
| NG_007098.2:g.859978G>A , LRG_351:g.859978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*385-46G>A | ENSP00000507923.1:n.*385-46G>A | |
| ENST00000682358.1:n.11361-46G>A | ||
| ENST00000683334.1:c.*6973-46G>A | ENSP00000507369.1:n.*6973-46G>A | |
| ENST00000357162.7:c.11216-46G>A MANE Select | ENSP00000349685.2:n.11216-46G>A | |
| ENST00000358544.7:c.11291-46G>A MANE Plus Clinical | ENSP00000351346.2:n.11291-46G>A | |
| ENST00000357162.6:c.11216-46G>A | ENSP00000349685.2:n.11216-46G>A | |
| ENST00000358544.6:c.11291-46G>A | ENSP00000351346.2:n.11291-46G>A | |
| ENST00000493587.1:n.187G>A | ||
| NM_017890.4:c.11291-46G>A , LRG_351t1:c.11291-46G>A | NP_060360.3:n.11291-46G>A | |
| NM_152564.4:c.11216-46G>A , LRG_351t2:c.11216-46G>A | NP_689777.3:n.11216-46G>A | |
| XM_005250800.2:c.11291-46G>A | XP_005250857.1:n.11291-46G>A | |
| XM_005250801.3:c.11291-46G>A | XP_005250858.1:n.11291-46G>A | |
| XM_011516848.1:c.11288-46G>A | XP_011515150.1:n.11288-46G>A | |
| XM_011516849.1:c.11213-46G>A | XP_011515151.1:n.11213-46G>A | |
| XM_011516850.1:c.10913-46G>A | XP_011515152.1:n.10913-46G>A | |
| XM_011516851.1:c.8177-46G>A | XP_011515153.1:n.8177-46G>A | |
| XM_011516852.1:c.8177-46G>A | XP_011515154.1:n.8177-46G>A | |
| XM_011516854.1:c.7070-46G>A | XP_011515156.1:n.7070-46G>A | |
| XM_005250800.3:c.11291-46G>A | XP_005250857.1:n.11291-46G>A | |
| XM_005250801.5:c.11291-46G>A | XP_005250858.1:n.11291-46G>A | |
| XM_011516848.2:c.11288-46G>A | XP_011515150.1:n.11288-46G>A | |
| XM_011516849.2:c.11213-46G>A | XP_011515151.1:n.11213-46G>A | |
| XM_011516850.2:c.10913-46G>A | XP_011515152.1:n.10913-46G>A | |
| XM_011516851.2:c.8177-46G>A | XP_011515153.1:n.8177-46G>A | |
| XM_011516852.2:c.8177-46G>A | XP_011515154.1:n.8177-46G>A | |
| XM_011516854.2:c.7070-46G>A | XP_011515156.1:n.7070-46G>A | |
| XM_017013109.1:c.11096-46G>A | XP_016868598.1:n.11096-46G>A | |
| XM_017013111.1:c.8177-46G>A | XP_016868600.1:n.8177-46G>A | |
| XM_017013112.1:c.6848-46G>A | XP_016868601.1:n.6848-46G>A | |
| XM_024447074.1:c.10076-46G>A | XP_024302842.1:n.10076-46G>A | |
| NM_017890.5:c.11291-46G>A MANE Plus Clinical | NP_060360.3:n.11291-46G>A | |
| NM_152564.5:c.11216-46G>A MANE Select | NP_689777.3:n.11216-46G>A |