Linked Data
ClinVar Variation Id:
1989342
ClinVar RCV Id:
RCV002795617
dbSNP Id:
rs755408161
ExAC:
1:150526327 A / C
gnomAD v2:
1-150526327-A-C
gnomAD v3:
1-150553851-A-C
gnomAD v4:
1-150553851-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150553851A>C , CM000663.2:g.150553851A>C | GRCh38 |
| NC_000001.10:g.150526327A>C , CM000663.1:g.150526327A>C | GRCh37 |
| NC_000001.9:g.148792951A>C | NCBI36 |
| NG_012172.1:g.9430A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271643.9:c.860A>C (ADAMTSL4) MANE Select | ENSP00000271643.4:p.Gln287Pro | |
| ENST00000674043.1:c.860A>C (ADAMTSL4) | ENSP00000501295.1:p.Gln287Pro | |
| ENST00000674058.1:c.860A>C (ADAMTSL4) | ENSP00000501255.1:p.Gln287Pro | |
| ENST00000271643.8:c.860A>C (ADAMTSL4) | ENSP00000271643.4:p.Gln287Pro | |
| ENST00000369038.6:c.860A>C (ADAMTSL4) | ENSP00000358034.2:p.Gln287Pro | |
| ENST00000369039.9:c.860A>C (ADAMTSL4) | ENSP00000358035.5:p.Gln287Pro | |
| ENST00000369041.9:c.860A>C (ADAMTSL4) | ENSP00000358037.5:p.Gln287Pro | |
| NM_001288607.1:c.860A>C (ADAMTSL4) | NP_001275536.1:p.Gln287Pro | |
| NM_001288608.1:c.860A>C (ADAMTSL4) | NP_001275537.1:p.Gln287Pro | |
| NM_019032.5:c.860A>C (ADAMTSL4) | NP_061905.2:p.Gln287Pro | |
| NM_025008.4:c.860A>C (ADAMTSL4) | NP_079284.2:p.Gln287Pro | |
| XM_011509644.1:c.959A>C (ADAMTSL4) | XP_011507946.1:p.Gln320Pro | |
| XM_011509645.1:c.959A>C (ADAMTSL4) | XP_011507947.1:p.Gln320Pro | |
| XM_011509646.1:c.860A>C (ADAMTSL4) | XP_011507948.1:p.Gln287Pro | |
| XM_011509647.1:c.860A>C (ADAMTSL4) | XP_011507949.1:p.Gln287Pro | |
| XM_011509648.1:c.860A>C (ADAMTSL4) | XP_011507950.1:p.Gln287Pro | |
| XM_011509649.1:c.959A>C (ADAMTSL4) | XP_011507951.1:p.Gln320Pro | |
| XM_011509650.1:c.959A>C (ADAMTSL4) | XP_011507952.1:p.Gln320Pro | |
| XR_921844.1:n.1144A>C (ADAMTSL4) | ||
| XR_922132.1:n.370+684T>G (ADAMTSL4-AS2) | ||
| XR_922133.1:n.417+684T>G (ADAMTSL4-AS2) | ||
| XM_011509644.3:c.959A>C (ADAMTSL4) | XP_011507946.1:p.Gln320Pro | |
| XM_011509645.3:c.959A>C (ADAMTSL4) | XP_011507947.1:p.Gln320Pro | |
| XM_011509648.3:c.860A>C (ADAMTSL4) | XP_011507950.1:p.Gln287Pro | |
| XM_011509649.3:c.959A>C (ADAMTSL4) | XP_011507951.1:p.Gln320Pro | |
| XM_011509650.3:c.959A>C (ADAMTSL4) | XP_011507952.1:p.Gln320Pro | |
| XM_017001506.2:c.860A>C (ADAMTSL4) | XP_016856995.1:p.Gln287Pro | |
| XR_001737242.2:n.1117A>C (ADAMTSL4) | ||
| XR_001738226.1:n.466+684T>G (ADAMTSL4-AS2) | ||
| XR_001738227.1:n.466+684T>G (ADAMTSL4-AS2) | ||
| XR_001738228.1:n.371+684T>G (ADAMTSL4-AS2) | ||
| XR_001738229.1:n.357+2103T>G (ADAMTSL4-AS2) | ||
| XR_921844.3:n.1117A>C (ADAMTSL4) | ||
| NM_001288607.2:c.860A>C (ADAMTSL4) | NP_001275536.1:p.Gln287Pro | |
| NM_025008.5:c.860A>C (ADAMTSL4) | NP_079284.2:p.Gln287Pro | |
| NM_001288608.2:c.860A>C (ADAMTSL4) | NP_001275537.1:p.Gln287Pro | |
| NM_001378596.1:c.860A>C (ADAMTSL4) | NP_001365525.1:p.Gln287Pro | |
| NM_019032.6:c.860A>C (ADAMTSL4) MANE Select | NP_061905.2:p.Gln287Pro |