Linked Data
ClinVar Variation Id:
226032
ClinVar RCV Id:
RCV000211544
dbSNP Id:
rs878854405
gnomAD v4:
X-54812155-A-G
PubMed:
PMID:27120771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54812155A>G , CM000685.2:g.54812155A>G | GRCh38 |
| NC_000023.10:g.54838588A>G , CM000685.1:g.54838588A>G | GRCh37 |
| NC_000023.9:g.54855313A>G | NCBI36 |
| NG_012844.1:g.9418A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375068.6:c.991-2A>G MANE Select | ENSP00000364209.1:n.991-2A>G | |
| ENST00000218439.8:c.991-2A>G | ENSP00000218439.4:n.991-2A>G | |
| ENST00000347546.8:c.937-2A>G | ENSP00000336962.4:n.937-2A>G | |
| ENST00000375053.6:c.991-2A>G | ENSP00000364193.2:n.991-2A>G | |
| ENST00000375058.5:c.991-2A>G | ENSP00000364198.1:n.991-2A>G | |
| ENST00000375060.5:c.736-2A>G | ENSP00000364200.1:n.736-2A>G | |
| ENST00000375068.5:c.991-2A>G | ENSP00000364209.1:n.991-2A>G | |
| ENST00000396224.1:c.991-2A>G | ENSP00000379526.1:n.991-2A>G | |
| ENST00000487482.5:n.123-2A>G | ||
| ENST00000627068.2:c.736-2A>G | ENSP00000486563.1:n.736-2A>G | |
| NM_014599.5:c.991-2A>G | NP_055414.2:n.991-2A>G | |
| NM_177433.2:c.991-2A>G | NP_803182.1:n.991-2A>G | |
| NM_201222.2:c.991-2A>G | NP_957516.1:n.991-2A>G | |
| NM_177433.3:c.991-2A>G MANE Select | NP_803182.1:n.991-2A>G | |
| NM_014599.6:c.991-2A>G | NP_055414.2:n.991-2A>G | |
| NM_201222.3:c.991-2A>G | NP_957516.1:n.991-2A>G |