Linked Data
ClinVar Variation Id:
39723
ClinVar RCV Id:
RCV000032935
dbSNP Id:
rs397515419
gnomAD v3:
1-145917809-G-A
gnomAD v4:
1-145917809-G-A
PubMed:
PMID:22581968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145917809G>A , CM000663.2:g.145917809G>A | GRCh38 |
| NC_000001.10:g.145517280C>T , CM000663.1:g.145517280C>T | GRCh37 |
| NC_000001.9:g.144228637C>T | NCBI36 |
| NG_032654.2:g.14728C>T , LRG_574:g.14728C>T | |
| NG_033000.3:g.6116C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369306.8:c.64C>T (PEX11B) MANE Select | ENSP00000358312.3:p.Gln22Ter | |
| ENST00000369306.7:c.64C>T (PEX11B) | ENSP00000358312.3:p.Gln22Ter | |
| ENST00000537888.1:c.22C>T (PEX11B) | ENSP00000437510.1:p.Gln8Ter | |
| ENST00000632040.1:c.467C>T (RBM8A) | ||
| ENST00000633781.1:c.412C>T (RBM8A) | ||
| ENST00000634130.1:n.470C>T (RBM8A) | ||
| NM_001184795.1:c.22C>T (PEX11B) | NP_001171724.1:p.Gln8Ter | |
| NM_003846.2:c.64C>T (PEX11B) | NP_003837.1:p.Gln22Ter | |
| NR_073491.1:n.296C>T (PEX11B) | ||
| NR_073492.1:n.293-3C>T (PEX11B) | ||
| NR_073493.2:n.512C>T (PEX11B) | ||
| NM_003846.3:c.64C>T (PEX11B) MANE Select | NP_003837.1:p.Gln22Ter | |
| NR_073491.2:n.89C>T (PEX11B) | ||
| NR_073492.2:n.86-3C>T (PEX11B) |