Linked Data
ClinVar Variation Id:
1122374
ClinVar RCV Id:
RCV001453038
dbSNP Id:
rs760191922
ExAC:
12:132425827 T / TC
gnomAD v2:
12-132425827-T-TC
gnomAD v3:
12-131941282-T-TC
gnomAD v4:
12-131941282-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941288dup , CM000674.2:g.131941288dup | GRCh38 |
| NC_000012.11:g.132425833dup , CM000674.1:g.132425833dup | GRCh37 |
| NC_000012.10:g.130991786dup | NCBI36 |
| NG_013039.1:g.17089dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.545-4dup MANE Select | ENSP00000365837.3:n.545-4dup | |
| ENST00000322060.9:c.461-4dup | ENSP00000324726.5:n.461-4dup | |
| ENST00000376649.7:c.545-4dup | ENSP00000365837.3:n.545-4dup | |
| ENST00000443358.6:c.461-4dup | ENSP00000392451.2:n.461-4dup | |
| ENST00000535067.5:c.358-2251dup | ENSP00000443969.1:n.358-2251dup | |
| ENST00000537484.1:c.470-4dup | ENSP00000440179.1:n.470-4dup | |
| ENST00000542167.2:c.386-4dup | ENSP00000438948.1:n.386-4dup | |
| ENST00000543754.1:n.362dup | ||
| NM_001002019.2:c.461-4dup | NP_001002019.1:n.461-4dup | |
| NM_001002020.2:c.461-4dup | NP_001002020.1:n.461-4dup | |
| NM_025215.5:c.545-4dup | NP_079491.2:n.545-4dup | |
| XM_011538768.1:c.146-4dup | XP_011537070.1:n.146-4dup | |
| XM_011538768.3:c.146-4dup | XP_011537070.1:n.146-4dup | |
| XR_001748872.1:n.1000-4dup | ||
| NM_001002019.3:c.461-4dup | NP_001002019.1:n.461-4dup | |
| NM_001002020.3:c.461-4dup | NP_001002020.1:n.461-4dup | |
| NM_025215.6:c.545-4dup MANE Select | NP_079491.2:n.545-4dup |