Linked Data
ClinVar Variation Id:
3018315
ClinVar RCV Id:
RCV003876978
dbSNP Id:
rs529476662
gnomAD v2:
8-100403941-C-A
gnomAD v3:
8-99391713-C-A
gnomAD v4:
8-99391713-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99391713C>A , CM000670.2:g.99391713C>A | GRCh38 |
| NC_000008.10:g.100403941C>A , CM000670.1:g.100403941C>A | GRCh37 |
| NC_000008.9:g.100473117C>A | NCBI36 |
| NG_007098.2:g.383448C>A , LRG_351:g.383448C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355155.6:c.3079+9C>A | ENSP00000347281.2:n.3079+9C>A | |
| ENST00000682145.1:n.2959+9C>A | ||
| ENST00000682153.1:c.3082+9C>A | ENSP00000507923.1:n.3082+9C>A | |
| ENST00000682234.1:c.3082+9C>A | ENSP00000508225.1:n.3082+9C>A | |
| ENST00000682358.1:n.3152+9C>A | ||
| ENST00000683334.1:c.3082+9C>A | ENSP00000507369.1:n.3082+9C>A | |
| ENST00000683486.1:n.3148+9C>A | ||
| ENST00000683619.1:n.3254+9C>A | ||
| ENST00000683869.1:n.3172C>A | ||
| ENST00000357162.7:c.3082+9C>A MANE Select | ENSP00000349685.2:n.3082+9C>A | |
| ENST00000358544.7:c.3082+9C>A MANE Plus Clinical | ENSP00000351346.2:n.3082+9C>A | |
| ENST00000357162.6:c.3082+9C>A | ENSP00000349685.2:n.3082+9C>A | |
| ENST00000358544.6:c.3082+9C>A | ENSP00000351346.2:n.3082+9C>A | |
| ENST00000496144.5:c.3082+9C>A | ENSP00000430900.1:n.3082+9C>A | |
| ENST00000521037.1:n.253+9C>A | ||
| ENST00000522802.5:n.304+9C>A | ||
| NM_017890.4:c.3082+9C>A , LRG_351t1:c.3082+9C>A | NP_060360.3:n.3082+9C>A | |
| NM_152564.4:c.3082+9C>A , LRG_351t2:c.3082+9C>A | NP_689777.3:n.3082+9C>A | |
| XM_005250800.2:c.3082+9C>A | XP_005250857.1:n.3082+9C>A | |
| XM_005250801.3:c.3082+9C>A | XP_005250858.1:n.3082+9C>A | |
| XM_006716510.2:c.3082+9C>A | XP_006716573.1:n.3082+9C>A | |
| XM_011516848.1:c.3079+9C>A | XP_011515150.1:n.3079+9C>A | |
| XM_011516849.1:c.3082+9C>A | XP_011515151.1:n.3082+9C>A | |
| XM_011516850.1:c.2704+9C>A | XP_011515152.1:n.2704+9C>A | |
| XM_011516851.1:c.-49+9C>A | XP_011515153.1:n.-49+9C>A | |
| XM_011516853.1:c.3082+9C>A | XP_011515155.1:n.3082+9C>A | |
| XM_011516855.1:c.3082+9C>A | XP_011515157.1:n.3082+9C>A | |
| XM_011516856.1:c.3082+9C>A | XP_011515158.1:n.3082+9C>A | |
| XM_011516857.1:c.3082+9C>A | XP_011515159.1:n.3082+9C>A | |
| XM_011516858.1:c.3082+9C>A | XP_011515160.1:n.3082+9C>A | |
| XM_011516859.1:c.3082+9C>A | XP_011515161.1:n.3082+9C>A | |
| XM_011516860.1:c.3082+9C>A | XP_011515162.1:n.3082+9C>A | |
| XM_011516861.1:c.3082+9C>A | XP_011515163.1:n.3082+9C>A | |
| XR_928301.1:n.3185+9C>A | ||
| XR_928302.1:n.3185+9C>A | ||
| XR_928303.1:n.3185+9C>A | ||
| XR_928304.1:n.3185+9C>A | ||
| XM_005250800.3:c.3082+9C>A | XP_005250857.1:n.3082+9C>A | |
| XM_005250801.5:c.3082+9C>A | XP_005250858.1:n.3082+9C>A | |
| XM_006716510.3:c.3082+9C>A | XP_006716573.1:n.3082+9C>A | |
| XM_011516848.2:c.3079+9C>A | XP_011515150.1:n.3079+9C>A | |
| XM_011516849.2:c.3082+9C>A | XP_011515151.1:n.3082+9C>A | |
| XM_011516850.2:c.2704+9C>A | XP_011515152.1:n.2704+9C>A | |
| XM_011516851.2:c.-49+9C>A | XP_011515153.1:n.-49+9C>A | |
| XM_011516853.2:c.3082+9C>A | XP_011515155.1:n.3082+9C>A | |
| XM_011516859.2:c.3082+9C>A | XP_011515161.1:n.3082+9C>A | |
| XM_017013109.1:c.2887+9C>A | XP_016868598.1:n.2887+9C>A | |
| XM_024447074.1:c.1867+9C>A | XP_024302842.1:n.1867+9C>A | |
| XM_024447075.1:c.3082+9C>A | XP_024302843.1:n.3082+9C>A | |
| XR_001745481.1:n.3185+9C>A | ||
| XR_001745482.2:n.3185+9C>A | ||
| XR_001745484.2:n.3185+9C>A | ||
| XR_002956601.1:n.3182+9C>A | ||
| XR_002956602.1:n.3185+9C>A | ||
| XR_928302.2:n.3185+9C>A | ||
| NM_017890.5:c.3082+9C>A MANE Plus Clinical | NP_060360.3:n.3082+9C>A | |
| NM_152564.5:c.3082+9C>A MANE Select | NP_689777.3:n.3082+9C>A |