Linked Data
ClinVar Variation Id:
31698
dbSNP Id:
rs145457535
ExAC:
17:42979917 A / C
gnomAD v2:
17-42979917-A-C
gnomAD v3:
17-44902549-A-C
gnomAD v4:
17-44902549-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44902549A>C , CM000679.2:g.44902549A>C | GRCh38 |
| NC_000017.10:g.42979917A>C , CM000679.1:g.42979917A>C | GRCh37 |
| NC_000017.9:g.40335443A>C | NCBI36 |
| NG_032674.1:g.2077T>G | |
| NG_032792.1:g.7838A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000417826.3:c.461A>C (CCDC103) MANE Select | ENSP00000391692.2:p.His154Pro | |
| ENST00000331733.4:c.-1281A>C (FAM187A) | ENSP00000329499.4:n.-1281A>C | |
| ENST00000357776.6:c.461A>C (CCDC103) | ENSP00000350420.2:p.His154Pro | |
| ENST00000410006.6:c.461A>C (CCDC103) | ENSP00000387252.1:p.His154Pro | |
| ENST00000412523.3:c.461A>C (FAM187A) | ENSP00000391869.3:p.His154Pro | |
| ENST00000417826.2:c.461A>C (CCDC103) | ENSP00000391692.2:p.His154Pro | |
| NM_001258395.1:c.461A>C (CCDC103) | NP_001245324.1:p.His154Pro | |
| NM_001258396.1:c.461A>C (CCDC103) | NP_001245325.1:p.His154Pro | |
| NM_001258397.1:c.*211A>C (CCDC103) | NP_001245326.1:n.*211A>C | |
| NM_001258398.1:c.*150A>C (CCDC103) | NP_001245327.1:n.*150A>C | |
| NM_001258399.1:c.*150A>C (CCDC103) | NP_001245328.1:n.*150A>C | |
| NM_213607.2:c.461A>C (CCDC103) | NP_998772.1:p.His154Pro | |
| NM_001258395.2:c.461A>C (CCDC103) | NP_001245324.1:p.His154Pro | |
| NM_001258396.2:c.461A>C (CCDC103) | NP_001245325.1:p.His154Pro | |
| NM_001258398.2:c.*150A>C (CCDC103) | NP_001245327.1:n.*150A>C | |
| NM_001258399.2:c.*150A>C (CCDC103) | NP_001245328.1:n.*150A>C | |
| NM_213607.3:c.461A>C (CCDC103) MANE Select | NP_998772.1:p.His154Pro | |
| NM_001258397.3:c.*211A>C (CCDC103) | NP_001245326.1:n.*211A>C | |
| NM_001258398.3:c.*150A>C (CCDC103) | NP_001245327.1:n.*150A>C |