Linked Data
dbSNP Id:
rs13299349
ExAC:
9:18573360 G / A
gnomAD v2:
9-18573360-G-A
gnomAD v3:
9-18573362-G-A
gnomAD v4:
9-18573362-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.18573362G>A , CM000671.2:g.18573362G>A | GRCh38 |
| NC_000009.11:g.18573360G>A , CM000671.1:g.18573360G>A | GRCh37 |
| NC_000009.10:g.18563360G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380548.9:c.238-668G>A (ADAMTSL1) MANE Select | ENSP00000369921.4:n.238-668G>A | |
| ENST00000680146.1:c.382-668G>A (ADAMTSL1) | ENSP00000505591.1:n.382-668G>A | |
| ENST00000276935.6:c.238-668G>A (ADAMTSL1) | ENSP00000276935.5:n.238-668G>A | |
| ENST00000327883.11:c.238-668G>A (ADAMTSL1) | ENSP00000327887.7:n.238-668G>A | |
| ENST00000380548.8:c.238-668G>A (ADAMTSL1) | ENSP00000369921.4:n.238-668G>A | |
| ENST00000380566.8:c.238-668G>A (ADAMTSL1) | ENSP00000369940.4:n.238-668G>A | |
| ENST00000380570.8:c.238-668G>A (ADAMTSL1) | ENSP00000369944.4:n.238-668G>A | |
| ENST00000431052.6:c.238-668G>A (ADAMTSL1) | ENSP00000401157.2:n.238-668G>A | |
| NM_001040272.5:c.238-668G>A (ADAMTSL1) | NP_001035362.3:n.238-668G>A | |
| NM_052866.4:c.238-668G>A (ADAMTSL1) | NP_443098.3:n.238-668G>A | |
| NR_036107.1:n.57G>A (MIR3152) | ||
| XM_011518063.1:c.436-668G>A (ADAMTSL1) | XP_011516365.1:n.436-668G>A | |
| XM_011518064.1:c.391-668G>A (ADAMTSL1) | XP_011516366.1:n.391-668G>A | |
| XM_011518065.1:c.358-668G>A (ADAMTSL1) | XP_011516367.1:n.358-668G>A | |
| XM_011518066.1:c.-213-668G>A (ADAMTSL1) | XP_011516368.1:n.-213-668G>A | |
| XM_011518063.2:c.436-668G>A (ADAMTSL1) | XP_011516365.1:n.436-668G>A | |
| XM_011518064.3:c.391-668G>A (ADAMTSL1) | XP_011516366.1:n.391-668G>A | |
| XM_017015310.1:c.394-668G>A (ADAMTSL1) | XP_016870799.1:n.394-668G>A | |
| XM_017015311.1:c.436-668G>A (ADAMTSL1) | XP_016870800.1:n.436-668G>A | |
| XM_017015312.2:c.391-668G>A (ADAMTSL1) | XP_016870801.1:n.391-668G>A | |
| XM_017015313.1:c.-213-668G>A (ADAMTSL1) | XP_016870802.1:n.-213-668G>A | |
| XM_017015314.1:c.436-668G>A (ADAMTSL1) | XP_016870803.1:n.436-668G>A | |
| NM_001040272.6:c.238-668G>A (ADAMTSL1) MANE Select | NP_001035362.3:n.238-668G>A | |
| NM_052866.5:c.238-668G>A (ADAMTSL1) | NP_443098.3:n.238-668G>A |