Linked Data
ClinVar Variation Id:
338019
dbSNP Id:
rs202127751
ExAC:
20:2640449 G / A
gnomAD v2:
20-2640449-G-A
gnomAD v3:
20-2659803-G-A
gnomAD v4:
20-2659803-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2659803G>A , CM000682.2:g.2659803G>A | GRCh38 |
| NC_000020.10:g.2640449G>A , CM000682.1:g.2640449G>A | GRCh37 |
| NC_000020.9:g.2588449G>A | NCBI36 |
| NG_012149.1:g.9395C>T | |
| NG_032136.1:g.12272G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380843.9:c.916-10C>T MANE Select | ENSP00000370223.4:n.916-10C>T | |
| ENST00000380843.8:c.916-10C>T | ENSP00000370223.4:n.916-10C>T | |
| ENST00000380851.9:c.916-10C>T | ENSP00000370232.5:n.916-10C>T | |
| ENST00000466494.6:c.194-10C>T | ||
| ENST00000466999.1:n.114C>T | ||
| ENST00000474315.5:c.916-10C>T | ENSP00000482773.1:n.916-10C>T | |
| ENST00000477689.2:c.157-10C>T | ||
| ENST00000488299.5:n.1022-10C>T | ||
| ENST00000492240.5:n.471C>T | ||
| ENST00000613370.1:c.916-10C>T | ENSP00000484922.1:n.916-10C>T | |
| NM_001258384.1:c.916-10C>T | NP_001245313.1:n.916-10C>T | |
| NM_006899.3:c.916-10C>T | NP_008830.2:n.916-10C>T | |
| NM_174855.2:c.916-10C>T | NP_777280.1:n.916-10C>T | |
| XM_005260716.1:c.916-10C>T | XP_005260773.1:n.916-10C>T | |
| XR_937066.1:n.944-10C>T | ||
| NM_001258384.2:c.916-10C>T | NP_001245313.1:n.916-10C>T | |
| NM_001330763.1:c.916-10C>T | NP_001317692.1:n.916-10C>T | |
| NM_006899.4:c.916-10C>T | NP_008830.2:n.916-10C>T | |
| NM_174855.3:c.916-10C>T | NP_777280.1:n.916-10C>T | |
| NR_136344.1:n.951-10C>T | ||
| XR_001754265.1:n.906-10C>T | ||
| XR_001754266.1:n.906-10C>T | ||
| XR_001754267.1:n.906-10C>T | ||
| NM_006899.5:c.916-10C>T MANE Select | NP_008830.2:n.916-10C>T | |
| NM_001330763.2:c.916-10C>T | NP_001317692.1:n.916-10C>T | |
| NM_174855.4:c.916-10C>T | NP_777280.1:n.916-10C>T | |
| NR_136344.2:n.944-10C>T | ||
| NM_001258384.3:c.916-10C>T | NP_001245313.1:n.916-10C>T |