Linked Data
ClinVar Variation Id:
1549956
ClinVar RCV Id:
RCV002189532
dbSNP Id:
rs374929892
ExAC:
8:100789202 A / G
gnomAD v2:
8-100789202-A-G
gnomAD v3:
8-99776974-A-G
gnomAD v4:
8-99776974-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99776974A>G , CM000670.2:g.99776974A>G | GRCh38 |
| NC_000008.10:g.100789202A>G , CM000670.1:g.100789202A>G | GRCh37 |
| NC_000008.9:g.100858378A>G | NCBI36 |
| NG_007098.2:g.768709A>G , LRG_351:g.768709A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.7504+18A>G | ENSP00000507923.1:n.7504+18A>G | |
| ENST00000682358.1:n.7574+18A>G | ||
| ENST00000683334.1:c.*3186+18A>G | ENSP00000507369.1:n.*3186+18A>G | |
| ENST00000357162.7:c.7429+18A>G MANE Select | ENSP00000349685.2:n.7429+18A>G | |
| ENST00000358544.7:c.7504+18A>G MANE Plus Clinical | ENSP00000351346.2:n.7504+18A>G | |
| ENST00000357162.6:c.7429+18A>G | ENSP00000349685.2:n.7429+18A>G | |
| ENST00000358544.6:c.7504+18A>G | ENSP00000351346.2:n.7504+18A>G | |
| ENST00000518569.1:n.378-1708A>G | ||
| NM_017890.4:c.7504+18A>G , LRG_351t1:c.7504+18A>G | NP_060360.3:n.7504+18A>G | |
| NM_152564.4:c.7429+18A>G , LRG_351t2:c.7429+18A>G | NP_689777.3:n.7429+18A>G | |
| XM_005250800.2:c.7504+18A>G | XP_005250857.1:n.7504+18A>G | |
| XM_005250801.3:c.7504+18A>G | XP_005250858.1:n.7504+18A>G | |
| XM_011516848.1:c.7501+18A>G | XP_011515150.1:n.7501+18A>G | |
| XM_011516849.1:c.7426+18A>G | XP_011515151.1:n.7426+18A>G | |
| XM_011516850.1:c.7126+18A>G | XP_011515152.1:n.7126+18A>G | |
| XM_011516851.1:c.4390+18A>G | XP_011515153.1:n.4390+18A>G | |
| XM_011516852.1:c.4390+18A>G | XP_011515154.1:n.4390+18A>G | |
| XM_011516853.1:c.7504+18A>G | XP_011515155.1:n.7504+18A>G | |
| XM_011516854.1:c.3283+18A>G | XP_011515156.1:n.3283+18A>G | |
| XR_928446.1:n.1830+5504T>C | ||
| XM_005250800.3:c.7504+18A>G | XP_005250857.1:n.7504+18A>G | |
| XM_005250801.5:c.7504+18A>G | XP_005250858.1:n.7504+18A>G | |
| XM_011516848.2:c.7501+18A>G | XP_011515150.1:n.7501+18A>G | |
| XM_011516849.2:c.7426+18A>G | XP_011515151.1:n.7426+18A>G | |
| XM_011516850.2:c.7126+18A>G | XP_011515152.1:n.7126+18A>G | |
| XM_011516851.2:c.4390+18A>G | XP_011515153.1:n.4390+18A>G | |
| XM_011516852.2:c.4390+18A>G | XP_011515154.1:n.4390+18A>G | |
| XM_011516853.2:c.7504+18A>G | XP_011515155.1:n.7504+18A>G | |
| XM_011516854.2:c.3283+18A>G | XP_011515156.1:n.3283+18A>G | |
| XM_017013109.1:c.7309+18A>G | XP_016868598.1:n.7309+18A>G | |
| XM_017013111.1:c.4390+18A>G | XP_016868600.1:n.4390+18A>G | |
| XM_017013112.1:c.3061+18A>G | XP_016868601.1:n.3061+18A>G | |
| XM_024447074.1:c.6289+18A>G | XP_024302842.1:n.6289+18A>G | |
| NM_017890.5:c.7504+18A>G MANE Plus Clinical | NP_060360.3:n.7504+18A>G | |
| NM_152564.5:c.7429+18A>G MANE Select | NP_689777.3:n.7429+18A>G |