Linked Data
ClinVar Variation Id:
472726
ClinVar RCV Id:
RCV000535273
dbSNP Id:
rs79932015
ExAC:
2:9630538 G / A
gnomAD v2:
2-9630538-G-A
gnomAD v3:
2-9490409-G-A
gnomAD v4:
2-9490409-G-A
COSMIC:
COSM252321
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.9490409G>A , CM000664.2:g.9490409G>A | GRCh38 |
| NC_000002.11:g.9630538G>A , CM000664.1:g.9630538G>A | GRCh37 |
| NC_000002.10:g.9547989G>A | NCBI36 |
| NG_029873.1:g.70380C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699315.1:n.2033C>T (ADAM17) | ||
| ENST00000699316.1:c.*2146C>T (ADAM17) | ENSP00000514295.1:n.*2146C>T | |
| ENST00000699317.1:c.*3556C>T (ADAM17) | ENSP00000514296.1:n.*3556C>T | |
| ENST00000699318.1:c.2153C>T (ADAM17) | ENSP00000514297.1:p.Ala718Val | |
| ENST00000699319.1:n.4481C>T (ADAM17) | ||
| ENST00000699320.1:n.1384C>T (ADAM17) | ||
| ENST00000699321.1:c.*1573C>T (ADAM17) | ENSP00000514298.1:n.*1573C>T | |
| ENST00000699322.1:n.1494C>T (ADAM17) | ||
| ENST00000310823.8:c.2243C>T (ADAM17) MANE Select | ENSP00000309968.3:p.Ala748Val | |
| ENST00000647610.1:c.*1703C>T (ADAM17) | ENSP00000497929.1:n.*1703C>T | |
| ENST00000647979.1:c.*1773C>T (ADAM17) | ENSP00000497542.1:n.*1773C>T | |
| ENST00000648548.1:n.2470C>T (ADAM17) | ||
| ENST00000648857.1:n.2313C>T (ADAM17) | ||
| ENST00000649227.1:c.*2004C>T (ADAM17) | ENSP00000497830.1:n.*2004C>T | |
| ENST00000649798.1:n.417C>T (ADAM17) | ||
| ENST00000650116.1:c.*2024C>T (ADAM17) | ENSP00000497592.1:n.*2024C>T | |
| ENST00000310823.7:c.2243C>T (ADAM17) | ENSP00000309968.3:p.Ala748Val | |
| ENST00000481367.5:c.749+2017G>A (IAH1) | ||
| NM_003183.4:c.2243C>T (ADAM17) | NP_003174.3:p.Ala748Val | |
| XM_011510375.1:c.2150C>T (ADAM17) | XP_011508677.1:p.Ala717Val | |
| XM_011510376.1:c.1583C>T (ADAM17) | XP_011508678.1:p.Ala528Val | |
| XM_011510377.1:c.1346C>T (ADAM17) | XP_011508679.1:p.Ala449Val | |
| XM_011510378.1:c.1346C>T (ADAM17) | XP_011508680.1:p.Ala449Val | |
| XR_426950.2:n.845+2017G>A (IAH1) | ||
| XR_426953.2:n.760+2017G>A (IAH1) | ||
| XR_922675.1:n.845+2017G>A (IAH1) | ||
| XR_922676.1:n.845+2017G>A (IAH1) | ||
| XR_922677.1:n.845+2017G>A (IAH1) | ||
| XR_922678.1:n.845+2017G>A (IAH1) | ||
| NM_003183.6:c.2243C>T (ADAM17) MANE Select | NP_003174.3:p.Ala748Val | |
| XM_011510375.3:c.2150C>T (ADAM17) | XP_011508677.1:p.Ala717Val | |
| XM_011510376.3:c.1583C>T (ADAM17) | XP_011508678.1:p.Ala528Val | |
| XM_017004785.2:c.1346C>T (ADAM17) | XP_016860274.1:p.Ala449Val | |
| XM_017004786.2:c.1346C>T (ADAM17) | XP_016860275.1:p.Ala449Val | |
| XM_024453056.1:c.1346C>T (ADAM17) | XP_024308824.1:p.Ala449Val | |
| XR_001738718.1:n.845+2017G>A (IAH1) | ||
| XR_001738721.1:n.845+2017G>A (IAH1) | ||
| XR_001738722.1:n.760+2017G>A (IAH1) | ||
| XR_001738723.1:n.760+2017G>A (IAH1) | ||
| XR_001738724.1:n.760+2017G>A (IAH1) | ||
| XR_002959279.1:n.1417+2017G>A (IAH1) | ||
| XR_002959280.1:n.1417+2017G>A (IAH1) | ||
| XR_002959281.1:n.1417+2017G>A (IAH1) | ||
| XR_002959282.1:n.845+2017G>A (IAH1) | ||
| XR_426953.3:n.760+2017G>A (IAH1) | ||
| NM_001382777.1:c.1583C>T (ADAM17) | NP_001369706.1:p.Ala528Val | |
| NM_001382778.1:c.1346C>T (ADAM17) | NP_001369707.1:p.Ala449Val |