Linked Data
ClinVar Variation Id:
2137932
dbSNP Id:
rs763764814
ExAC:
1:150529773 G / A
gnomAD v2:
1-150529773-G-A
gnomAD v3:
1-150557297-G-A
gnomAD v4:
1-150557297-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150557297G>A , CM000663.2:g.150557297G>A | GRCh38 |
| NC_000001.10:g.150529773G>A , CM000663.1:g.150529773G>A | GRCh37 |
| NC_000001.9:g.148796397G>A | NCBI36 |
| NG_012172.1:g.12876G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271643.9:c.2009G>A (ADAMTSL4) MANE Select | ENSP00000271643.4:p.Arg670Gln | |
| ENST00000674043.1:c.2078G>A (ADAMTSL4) | ENSP00000501295.1:p.Arg693Gln | |
| ENST00000674058.1:c.1892G>A (ADAMTSL4) | ENSP00000501255.1:p.Arg631Gln | |
| ENST00000271643.8:c.2009G>A (ADAMTSL4) | ENSP00000271643.4:p.Arg670Gln | |
| ENST00000369038.6:c.2009G>A (ADAMTSL4) | ENSP00000358034.2:p.Arg670Gln | |
| ENST00000369039.9:c.2078G>A (ADAMTSL4) | ENSP00000358035.5:p.Arg693Gln | |
| ENST00000369041.9:c.2009G>A (ADAMTSL4) | ENSP00000358037.5:p.Arg670Gln | |
| ENST00000622417.4:c.623G>A (ADAMTSL4) | ENSP00000477897.1:p.Arg208Gln | |
| NM_001288607.1:c.1892G>A (ADAMTSL4) | NP_001275536.1:p.Arg631Gln | |
| NM_001288608.1:c.2078G>A (ADAMTSL4) | NP_001275537.1:p.Arg693Gln | |
| NM_019032.5:c.2009G>A (ADAMTSL4) | NP_061905.2:p.Arg670Gln | |
| NM_025008.4:c.2009G>A (ADAMTSL4) | NP_079284.2:p.Arg670Gln | |
| XM_011509644.1:c.2177G>A (ADAMTSL4) | XP_011507946.1:p.Arg726Gln | |
| XM_011509645.1:c.2108G>A (ADAMTSL4) | XP_011507947.1:p.Arg703Gln | |
| XM_011509646.1:c.2078G>A (ADAMTSL4) | XP_011507948.1:p.Arg693Gln | |
| XM_011509647.1:c.2078G>A (ADAMTSL4) | XP_011507949.1:p.Arg693Gln | |
| XM_011509648.1:c.2078G>A (ADAMTSL4) | XP_011507950.1:p.Arg693Gln | |
| XM_011509649.1:c.2177G>A (ADAMTSL4) | XP_011507951.1:p.Arg726Gln | |
| XM_011509650.1:c.2177G>A (ADAMTSL4) | XP_011507952.1:p.Arg726Gln | |
| XM_011509651.1:c.686G>A (ADAMTSL4) | XP_011507953.1:p.Arg229Gln | |
| XM_011509652.1:c.686G>A (ADAMTSL4) | XP_011507954.1:p.Arg229Gln | |
| XR_921844.1:n.2362G>A (ADAMTSL4) | ||
| XR_922133.1:n.139+396C>T (ADAMTSL4-AS2) | ||
| XM_011509644.3:c.2177G>A (ADAMTSL4) | XP_011507946.1:p.Arg726Gln | |
| XM_011509645.3:c.2108G>A (ADAMTSL4) | XP_011507947.1:p.Arg703Gln | |
| XM_011509648.3:c.2078G>A (ADAMTSL4) | XP_011507950.1:p.Arg693Gln | |
| XM_011509649.3:c.2177G>A (ADAMTSL4) | XP_011507951.1:p.Arg726Gln | |
| XM_011509650.3:c.2177G>A (ADAMTSL4) | XP_011507952.1:p.Arg726Gln | |
| XM_011509651.2:c.686G>A (ADAMTSL4) | XP_011507953.1:p.Arg229Gln | |
| XM_011509652.2:c.686G>A (ADAMTSL4) | XP_011507954.1:p.Arg229Gln | |
| XM_017001506.2:c.2078G>A (ADAMTSL4) | XP_016856995.1:p.Arg693Gln | |
| XM_017001507.1:c.422G>A (ADAMTSL4) | XP_016856996.1:p.Arg141Gln | |
| XR_001737242.2:n.2162G>A (ADAMTSL4) | ||
| XR_921844.3:n.2335G>A (ADAMTSL4) | ||
| NM_001288607.2:c.1892G>A (ADAMTSL4) | NP_001275536.1:p.Arg631Gln | |
| NM_025008.5:c.2009G>A (ADAMTSL4) | NP_079284.2:p.Arg670Gln | |
| NM_001288608.2:c.2078G>A (ADAMTSL4) | NP_001275537.1:p.Arg693Gln | |
| NM_001378596.1:c.2009G>A (ADAMTSL4) | NP_001365525.1:p.Arg670Gln | |
| NM_019032.6:c.2009G>A (ADAMTSL4) MANE Select | NP_061905.2:p.Arg670Gln |