Linked Data
ClinVar Variation Id:
2958088
ClinVar RCV Id:
RCV003814336
dbSNP Id:
rs368644656
ExAC:
17:61911099 G / C
gnomAD v2:
17-61911099-G-C
gnomAD v3:
17-63833739-G-C
gnomAD v4:
17-63833739-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63833739G>C , CM000679.2:g.63833739G>C | GRCh38 |
| NC_000017.10:g.61911099G>C , CM000679.1:g.61911099G>C | GRCh37 |
| NC_000017.9:g.59264831G>C | NCBI36 |
| NG_053004.1:g.14253C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584483.6:n.1384-17C>G | ||
| ENST00000697953.1:n.2034-17C>G | ||
| ENST00000698013.1:n.2146-17C>G | ||
| ENST00000698014.1:n.2292-17C>G | ||
| ENST00000698015.1:n.1462-17C>G | ||
| ENST00000698016.1:c.1041-17C>G | ENSP00000513502.1:n.1041-17C>G | |
| ENST00000698017.1:n.1536-17C>G | ||
| ENST00000698018.1:n.1667-17C>G | ||
| ENST00000698019.1:n.1865-17C>G | ||
| ENST00000698020.1:n.971-17C>G | ||
| ENST00000698021.1:c.880-17C>G | ||
| ENST00000698022.1:c.1020-17C>G | ENSP00000513504.1:n.1020-17C>G | |
| ENST00000698023.1:n.1475-17C>G | ||
| ENST00000698024.1:n.1350-17C>G | ||
| ENST00000698025.1:n.1383-17C>G | ||
| ENST00000698026.1:n.461C>G | ||
| ENST00000698027.1:c.1041-17C>G | ENSP00000513505.1:n.1041-17C>G | |
| ENST00000698028.1:n.1377-17C>G | ||
| ENST00000698029.1:n.2029-17C>G | ||
| ENST00000448276.7:c.1182-17C>G MANE Select | ENSP00000392617.2:n.1182-17C>G | |
| ENST00000225742.13:c.957-17C>G | ENSP00000225742.9:n.957-17C>G | |
| ENST00000323347.14:c.1038-17C>G | ENSP00000318451.10:n.1038-17C>G | |
| ENST00000448276.6:c.1182-17C>G | ENSP00000392617.2:n.1182-17C>G | |
| ENST00000450364.3:c.403-17C>G | ||
| ENST00000584483.5:n.804-17C>G | ||
| ENST00000613943.4:c.1071-17C>G | ENSP00000483605.1:n.1071-17C>G | |
| NM_001098426.1:c.1182-17C>G | NP_001091896.1:n.1182-17C>G | |
| XM_005257604.2:c.957-17C>G | XP_005257661.2:n.957-17C>G | |
| NM_001330439.1:c.957-17C>G | NP_001317368.1:n.957-17C>G | |
| NM_001330440.1:c.1038-17C>G | NP_001317369.1:n.1038-17C>G | |
| NM_001098426.2:c.1182-17C>G MANE Select | NP_001091896.1:n.1182-17C>G | |
| NM_001330440.2:c.1038-17C>G | NP_001317369.1:n.1038-17C>G |