Linked Data
ClinVar Variation Id:
292513
ClinVar RCV Id:
RCV000319225
dbSNP Id:
rs12061739
gnomAD v2:
1-150522313-C-T
gnomAD v3:
1-150549837-C-T
gnomAD v4:
1-150549837-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150549837C>T , CM000663.2:g.150549837C>T | GRCh38 |
| NC_000001.10:g.150522313C>T , CM000663.1:g.150522313C>T | GRCh37 |
| NC_000001.9:g.148788937C>T | NCBI36 |
| NG_012172.1:g.5416C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271643.9:c.-143C>T (ADAMTSL4) MANE Select | ENSP00000271643.4:n.-143C>T | |
| ENST00000271643.8:c.-143C>T (ADAMTSL4) | ENSP00000271643.4:n.-143C>T | |
| ENST00000369039.9:c.-143C>T (ADAMTSL4) | ENSP00000358035.5:n.-143C>T | |
| ENST00000369041.9:c.-143C>T (ADAMTSL4) | ENSP00000358037.5:n.-143C>T | |
| ENST00000483335.1:n.95C>T (ADAMTSL4) | ||
| NM_001288607.1:c.-143C>T (ADAMTSL4) | NP_001275536.1:n.-143C>T | |
| NM_001288608.1:c.-143C>T (ADAMTSL4) | NP_001275537.1:n.-143C>T | |
| NM_019032.5:c.-143C>T (ADAMTSL4) | NP_061905.2:n.-143C>T | |
| NM_025008.4:c.-143C>T (ADAMTSL4) | NP_079284.2:n.-143C>T | |
| XM_011509646.1:c.-278C>T (ADAMTSL4) | XP_011507948.1:n.-278C>T | |
| XM_011509648.1:c.-85+338C>T (ADAMTSL4) | XP_011507950.1:n.-85+338C>T | |
| XR_922132.1:n.371-1087G>A (ADAMTSL4-AS2) | ||
| XR_922133.1:n.418-1087G>A (ADAMTSL4-AS2) | ||
| XM_011509648.3:c.-85+338C>T (ADAMTSL4) | XP_011507950.1:n.-85+338C>T | |
| XM_017001506.2:c.-524C>T (ADAMTSL4) | XP_016856995.1:n.-524C>T | |
| XR_001738227.1:n.467-1087G>A (ADAMTSL4-AS2) | ||
| XR_001738229.1:n.358-1087G>A (ADAMTSL4-AS2) | ||
| NM_001288607.2:c.-143C>T (ADAMTSL4) | NP_001275536.1:n.-143C>T | |
| NM_025008.5:c.-143C>T (ADAMTSL4) | NP_079284.2:n.-143C>T | |
| NM_001288608.2:c.-143C>T (ADAMTSL4) | NP_001275537.1:n.-143C>T | |
| NM_001378596.1:c.-524C>T (ADAMTSL4) | NP_001365525.1:n.-524C>T | |
| NM_019032.6:c.-143C>T (ADAMTSL4) MANE Select | NP_061905.2:n.-143C>T |