Linked Data
ClinVar Variation Id:
323583
dbSNP Id:
rs557822238
ExAC:
17:42979969 G / A
gnomAD v2:
17-42979969-G-A
gnomAD v3:
17-44902601-G-A
gnomAD v4:
17-44902601-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44902601G>A , CM000679.2:g.44902601G>A | GRCh38 |
| NC_000017.10:g.42979969G>A , CM000679.1:g.42979969G>A | GRCh37 |
| NC_000017.9:g.40335495G>A | NCBI36 |
| NG_032674.1:g.2025C>T | |
| NG_032792.1:g.7890G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417826.3:c.513G>A (CCDC103) MANE Select | ENSP00000391692.2:p.Ala171= | |
| ENST00000331733.4:c.-1229G>A (FAM187A) | ENSP00000329499.4:n.-1229G>A | |
| ENST00000357776.6:c.513G>A (CCDC103) | ENSP00000350420.2:p.Ala171= | |
| ENST00000410006.6:c.513G>A (CCDC103) | ENSP00000387252.1:p.Ala171= | |
| ENST00000412523.3:c.513G>A (FAM187A) | ENSP00000391869.3:p.Ala171= | |
| ENST00000417826.2:c.513G>A (CCDC103) | ENSP00000391692.2:p.Ala171= | |
| NM_001258395.1:c.513G>A (CCDC103) | NP_001245324.1:p.Ala171= | |
| NM_001258396.1:c.513G>A (CCDC103) | NP_001245325.1:p.Ala171= | |
| NM_001258397.1:c.*263G>A (CCDC103) | NP_001245326.1:n.*263G>A | |
| NM_001258398.1:c.*202G>A (CCDC103) | NP_001245327.1:n.*202G>A | |
| NM_001258399.1:c.*202G>A (CCDC103) | NP_001245328.1:n.*202G>A | |
| NM_213607.2:c.513G>A (CCDC103) | NP_998772.1:p.Ala171= | |
| NM_001258395.2:c.513G>A (CCDC103) | NP_001245324.1:p.Ala171= | |
| NM_001258396.2:c.513G>A (CCDC103) | NP_001245325.1:p.Ala171= | |
| NM_001258398.2:c.*202G>A (CCDC103) | NP_001245327.1:n.*202G>A | |
| NM_001258399.2:c.*202G>A (CCDC103) | NP_001245328.1:n.*202G>A | |
| NM_213607.3:c.513G>A (CCDC103) MANE Select | NP_998772.1:p.Ala171= | |
| NM_001258397.3:c.*263G>A (CCDC103) | NP_001245326.1:n.*263G>A | |
| NM_001258398.3:c.*202G>A (CCDC103) | NP_001245327.1:n.*202G>A |