Linked Data
ClinVar Variation Id:
366693
dbSNP Id:
rs774758389
ExAC:
9:34514627 C / T
gnomAD v2:
9-34514627-C-T
gnomAD v3:
9-34514629-C-T
gnomAD v4:
9-34514629-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34514629C>T , CM000671.2:g.34514629C>T | GRCh38 |
| NC_000009.11:g.34514627C>T , CM000671.1:g.34514627C>T | GRCh37 |
| NC_000009.10:g.34504627C>T | NCBI36 |
| NG_008127.1:g.60817C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.1719-11C>T MANE Select | ENSP00000242317.4:n.1719-11C>T | |
| ENST00000242317.8:c.1719-11C>T | ENSP00000242317.4:n.1719-11C>T | |
| ENST00000442556.1:c.230-11C>T | ||
| ENST00000470169.5:c.507-11C>T | ||
| ENST00000485580.1:n.284C>T | ||
| ENST00000614641.4:c.1731-11C>T | ENSP00000480538.1:n.1731-11C>T | |
| NM_001281428.1:c.1731-11C>T | NP_001268357.1:n.1731-11C>T | |
| NM_012144.3:c.1719-11C>T | NP_036276.1:n.1719-11C>T | |
| XM_006716758.2:c.1188-11C>T | XP_006716821.1:n.1188-11C>T | |
| XM_011517846.1:c.1731-11C>T | XP_011516148.1:n.1731-11C>T | |
| XM_011517847.1:c.1731-11C>T | XP_011516149.1:n.1731-11C>T | |
| XM_011517848.1:c.1473-11C>T | XP_011516150.1:n.1473-11C>T | |
| XM_011517849.1:c.1621-11C>T | XP_011516151.1:n.1621-11C>T | |
| XR_929232.1:n.1875-11C>T | ||
| XR_929233.1:n.1875-11C>T | ||
| XR_929235.1:n.1617-11C>T | ||
| XM_006716758.3:c.1188-11C>T | XP_006716821.1:n.1188-11C>T | |
| XM_011517846.2:c.1731-11C>T | XP_011516148.1:n.1731-11C>T | |
| XM_011517847.3:c.1731-11C>T | XP_011516149.1:n.1731-11C>T | |
| XM_011517848.2:c.1473-11C>T | XP_011516150.1:n.1473-11C>T | |
| XM_011517849.2:c.1621-11C>T | XP_011516151.1:n.1621-11C>T | |
| XM_017014625.2:c.1461-11C>T | XP_016870114.1:n.1461-11C>T | |
| XR_002956774.1:n.1822-11C>T | ||
| XR_929232.2:n.1822-11C>T | ||
| XR_929233.2:n.1822-11C>T | ||
| NM_012144.4:c.1719-11C>T MANE Select | NP_036276.1:n.1719-11C>T | |
| NM_001281428.2:c.1731-11C>T | NP_001268357.1:n.1731-11C>T |