Linked Data
ClinVar Variation Id:
1484532
ClinVar RCV Id:
RCV002005871
dbSNP Id:
rs2101632629
gnomAD v4:
1-150557024-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150557024A>G , CM000663.2:g.150557024A>G | GRCh38 |
| NC_000001.10:g.150529500A>G , CM000663.1:g.150529500A>G | GRCh37 |
| NC_000001.9:g.148796124A>G | NCBI36 |
| NG_012172.1:g.12603A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271643.9:c.1835A>G (ADAMTSL4) MANE Select | ENSP00000271643.4:p.Glu612Gly | |
| ENST00000674043.1:c.1904A>G (ADAMTSL4) | ENSP00000501295.1:p.Glu635Gly | |
| ENST00000674058.1:c.1856+48A>G (ADAMTSL4) | ENSP00000501255.1:n.1856+48A>G | |
| ENST00000271643.8:c.1835A>G (ADAMTSL4) | ENSP00000271643.4:p.Glu612Gly | |
| ENST00000369038.6:c.1835A>G (ADAMTSL4) | ENSP00000358034.2:p.Glu612Gly | |
| ENST00000369039.9:c.1904A>G (ADAMTSL4) | ENSP00000358035.5:p.Glu635Gly | |
| ENST00000369041.9:c.1835A>G (ADAMTSL4) | ENSP00000358037.5:p.Glu612Gly | |
| ENST00000622417.4:c.449A>G (ADAMTSL4) | ENSP00000477897.1:p.Glu150Gly | |
| NM_001288607.1:c.1856+48A>G (ADAMTSL4) | NP_001275536.1:n.1856+48A>G | |
| NM_001288608.1:c.1904A>G (ADAMTSL4) | NP_001275537.1:p.Glu635Gly | |
| NM_019032.5:c.1835A>G (ADAMTSL4) | NP_061905.2:p.Glu612Gly | |
| NM_025008.4:c.1835A>G (ADAMTSL4) | NP_079284.2:p.Glu612Gly | |
| XM_011509644.1:c.2003A>G (ADAMTSL4) | XP_011507946.1:p.Glu668Gly | |
| XM_011509645.1:c.1934A>G (ADAMTSL4) | XP_011507947.1:p.Glu645Gly | |
| XM_011509646.1:c.1904A>G (ADAMTSL4) | XP_011507948.1:p.Glu635Gly | |
| XM_011509647.1:c.1904A>G (ADAMTSL4) | XP_011507949.1:p.Glu635Gly | |
| XM_011509648.1:c.1904A>G (ADAMTSL4) | XP_011507950.1:p.Glu635Gly | |
| XM_011509649.1:c.2003A>G (ADAMTSL4) | XP_011507951.1:p.Glu668Gly | |
| XM_011509650.1:c.2003A>G (ADAMTSL4) | XP_011507952.1:p.Glu668Gly | |
| XM_011509651.1:c.512A>G (ADAMTSL4) | XP_011507953.1:p.Glu171Gly | |
| XM_011509652.1:c.512A>G (ADAMTSL4) | XP_011507954.1:p.Glu171Gly | |
| XR_921844.1:n.2188A>G (ADAMTSL4) | ||
| XR_922133.1:n.139+669T>C (ADAMTSL4-AS2) | ||
| XM_011509644.3:c.2003A>G (ADAMTSL4) | XP_011507946.1:p.Glu668Gly | |
| XM_011509645.3:c.1934A>G (ADAMTSL4) | XP_011507947.1:p.Glu645Gly | |
| XM_011509648.3:c.1904A>G (ADAMTSL4) | XP_011507950.1:p.Glu635Gly | |
| XM_011509649.3:c.2003A>G (ADAMTSL4) | XP_011507951.1:p.Glu668Gly | |
| XM_011509650.3:c.2003A>G (ADAMTSL4) | XP_011507952.1:p.Glu668Gly | |
| XM_011509651.2:c.512A>G (ADAMTSL4) | XP_011507953.1:p.Glu171Gly | |
| XM_011509652.2:c.512A>G (ADAMTSL4) | XP_011507954.1:p.Glu171Gly | |
| XM_017001506.2:c.1904A>G (ADAMTSL4) | XP_016856995.1:p.Glu635Gly | |
| XM_017001507.1:c.248A>G (ADAMTSL4) | XP_016856996.1:p.Glu83Gly | |
| XR_001737242.2:n.1988A>G (ADAMTSL4) | ||
| XR_921844.3:n.2161A>G (ADAMTSL4) | ||
| NM_001288607.2:c.1856+48A>G (ADAMTSL4) | NP_001275536.1:n.1856+48A>G | |
| NM_025008.5:c.1835A>G (ADAMTSL4) | NP_079284.2:p.Glu612Gly | |
| NM_001288608.2:c.1904A>G (ADAMTSL4) | NP_001275537.1:p.Glu635Gly | |
| NM_001378596.1:c.1835A>G (ADAMTSL4) | NP_001365525.1:p.Glu612Gly | |
| NM_019032.6:c.1835A>G (ADAMTSL4) MANE Select | NP_061905.2:p.Glu612Gly |