Linked Data
ClinVar Variation Id:
539948
ClinVar RCV Id:
RCV000649850
dbSNP Id:
rs761391373
ExAC:
2:9630365 C / G
gnomAD v2:
2-9630365-C-G
gnomAD v3:
2-9490236-C-G
gnomAD v4:
2-9490236-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.9490236C>G , CM000664.2:g.9490236C>G | GRCh38 |
| NC_000002.11:g.9630365C>G , CM000664.1:g.9630365C>G | GRCh37 |
| NC_000002.10:g.9547816C>G | NCBI36 |
| NG_029873.1:g.70553G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699315.1:n.2206G>C (ADAM17) | ||
| ENST00000699316.1:c.*2319G>C (ADAM17) | ENSP00000514295.1:n.*2319G>C | |
| ENST00000699317.1:c.*3729G>C (ADAM17) | ENSP00000514296.1:n.*3729G>C | |
| ENST00000699318.1:c.2326G>C (ADAM17) | ENSP00000514297.1:p.Ala776Pro | |
| ENST00000699319.1:n.4654G>C (ADAM17) | ||
| ENST00000699320.1:n.1557G>C (ADAM17) | ||
| ENST00000699321.1:c.*1746G>C (ADAM17) | ENSP00000514298.1:n.*1746G>C | |
| ENST00000699322.1:n.1667G>C (ADAM17) | ||
| ENST00000310823.8:c.2416G>C (ADAM17) MANE Select | ENSP00000309968.3:p.Ala806Pro | |
| ENST00000647610.1:c.*1876G>C (ADAM17) | ENSP00000497929.1:n.*1876G>C | |
| ENST00000647979.1:c.*1946G>C (ADAM17) | ENSP00000497542.1:n.*1946G>C | |
| ENST00000648548.1:n.2643G>C (ADAM17) | ||
| ENST00000648857.1:n.2486G>C (ADAM17) | ||
| ENST00000649227.1:c.*2177G>C (ADAM17) | ENSP00000497830.1:n.*2177G>C | |
| ENST00000650116.1:c.*2197G>C (ADAM17) | ENSP00000497592.1:n.*2197G>C | |
| ENST00000310823.7:c.2416G>C (ADAM17) | ENSP00000309968.3:p.Ala806Pro | |
| ENST00000481367.5:c.749+1844C>G (IAH1) | ||
| NM_003183.4:c.2416G>C (ADAM17) | NP_003174.3:p.Ala806Pro | |
| XM_011510375.1:c.2323G>C (ADAM17) | XP_011508677.1:p.Ala775Pro | |
| XM_011510376.1:c.1756G>C (ADAM17) | XP_011508678.1:p.Ala586Pro | |
| XM_011510377.1:c.1519G>C (ADAM17) | XP_011508679.1:p.Ala507Pro | |
| XM_011510378.1:c.1519G>C (ADAM17) | XP_011508680.1:p.Ala507Pro | |
| XR_426950.2:n.845+1844C>G (IAH1) | ||
| XR_426953.2:n.760+1844C>G (IAH1) | ||
| XR_922675.1:n.845+1844C>G (IAH1) | ||
| XR_922676.1:n.845+1844C>G (IAH1) | ||
| XR_922677.1:n.845+1844C>G (IAH1) | ||
| XR_922678.1:n.845+1844C>G (IAH1) | ||
| NM_003183.6:c.2416G>C (ADAM17) MANE Select | NP_003174.3:p.Ala806Pro | |
| XM_011510375.3:c.2323G>C (ADAM17) | XP_011508677.1:p.Ala775Pro | |
| XM_011510376.3:c.1756G>C (ADAM17) | XP_011508678.1:p.Ala586Pro | |
| XM_017004785.2:c.1519G>C (ADAM17) | XP_016860274.1:p.Ala507Pro | |
| XM_017004786.2:c.1519G>C (ADAM17) | XP_016860275.1:p.Ala507Pro | |
| XM_024453056.1:c.1519G>C (ADAM17) | XP_024308824.1:p.Ala507Pro | |
| XR_001738718.1:n.845+1844C>G (IAH1) | ||
| XR_001738721.1:n.845+1844C>G (IAH1) | ||
| XR_001738722.1:n.760+1844C>G (IAH1) | ||
| XR_001738723.1:n.760+1844C>G (IAH1) | ||
| XR_001738724.1:n.760+1844C>G (IAH1) | ||
| XR_002959279.1:n.1417+1844C>G (IAH1) | ||
| XR_002959280.1:n.1417+1844C>G (IAH1) | ||
| XR_002959281.1:n.1417+1844C>G (IAH1) | ||
| XR_002959282.1:n.845+1844C>G (IAH1) | ||
| XR_426953.3:n.760+1844C>G (IAH1) | ||
| NM_001382777.1:c.1756G>C (ADAM17) | NP_001369706.1:p.Ala586Pro | |
| NM_001382778.1:c.1519G>C (ADAM17) | NP_001369707.1:p.Ala507Pro |