Linked Data
ClinVar Variation Id:
323584
dbSNP Id:
rs763062802
ExAC:
17:42980062 C / A
gnomAD v2:
17-42980062-C-A
gnomAD v4:
17-44902694-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44902694C>A , CM000679.2:g.44902694C>A | GRCh38 |
| NC_000017.10:g.42980062C>A , CM000679.1:g.42980062C>A | GRCh37 |
| NC_000017.9:g.40335588C>A | NCBI36 |
| NG_032674.1:g.1932G>T | |
| NG_032792.1:g.7983C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417826.3:c.606C>A (CCDC103) MANE Select | ENSP00000391692.2:p.Gly202= | |
| ENST00000331733.4:c.-1136C>A (FAM187A) | ENSP00000329499.4:n.-1136C>A | |
| ENST00000357776.6:c.606C>A (CCDC103) | ENSP00000350420.2:p.Gly202= | |
| ENST00000410006.6:c.606C>A (CCDC103) | ENSP00000387252.1:p.Gly202= | |
| ENST00000412523.3:c.606C>A (FAM187A) | ENSP00000391869.3:p.Gly202= | |
| ENST00000417826.2:c.606C>A (CCDC103) | ENSP00000391692.2:p.Gly202= | |
| NM_001258395.1:c.606C>A (CCDC103) | NP_001245324.1:p.Gly202= | |
| NM_001258396.1:c.606C>A (CCDC103) | NP_001245325.1:p.Gly202= | |
| NM_001258397.1:c.*356C>A (CCDC103) | NP_001245326.1:n.*356C>A | |
| NM_001258398.1:c.*295C>A (CCDC103) | NP_001245327.1:n.*295C>A | |
| NM_001258399.1:c.*295C>A (CCDC103) | NP_001245328.1:n.*295C>A | |
| NM_213607.2:c.606C>A (CCDC103) | NP_998772.1:p.Gly202= | |
| NM_001258395.2:c.606C>A (CCDC103) | NP_001245324.1:p.Gly202= | |
| NM_001258396.2:c.606C>A (CCDC103) | NP_001245325.1:p.Gly202= | |
| NM_001258398.2:c.*295C>A (CCDC103) | NP_001245327.1:n.*295C>A | |
| NM_001258399.2:c.*295C>A (CCDC103) | NP_001245328.1:n.*295C>A | |
| NM_213607.3:c.606C>A (CCDC103) MANE Select | NP_998772.1:p.Gly202= | |
| NM_001258397.3:c.*356C>A (CCDC103) | NP_001245326.1:n.*356C>A | |
| NM_001258398.3:c.*295C>A (CCDC103) | NP_001245327.1:n.*295C>A |