Linked Data
ClinVar Variation Id:
488559
ClinVar RCV Id:
RCV000578463
dbSNP Id:
rs1554059248
gnomAD v4:
5-53646231-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53646231A>G , CM000667.2:g.53646231A>G | GRCh38 |
| NC_000005.9:g.52942061A>G , CM000667.1:g.52942061A>G | GRCh37 |
| NC_000005.8:g.52977818A>G | NCBI36 |
| NG_008200.1:g.90597A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.178-2A>G MANE Select | ENSP00000296684.5:n.178-2A>G | |
| ENST00000296684.9:c.178-2A>G | ENSP00000296684.5:n.178-2A>G | |
| ENST00000502423.5:c.*45-2A>G | ENSP00000422177.1:n.*45-2A>G | |
| ENST00000506765.1:c.166-2A>G | ENSP00000424570.1:n.166-2A>G | |
| ENST00000506974.5:c.350-2A>G | ENSP00000425967.1:n.350-2A>G | |
| ENST00000507026.5:c.*152-2A>G | ENSP00000424993.1:n.*152-2A>G | |
| ENST00000509443.1:n.37A>G | ||
| NM_002495.2:c.178-2A>G | NP_002486.1:n.178-2A>G | |
| XM_005248525.3:c.178-2A>G | XP_005248582.1:n.178-2A>G | |
| XM_011543415.1:c.4-2A>G | XP_011541717.1:n.4-2A>G | |
| NM_001318051.1:c.178-2A>G | NP_001304980.1:n.178-2A>G | |
| NM_002495.3:c.178-2A>G | NP_002486.1:n.178-2A>G | |
| NR_134473.1:n.380-2A>G | ||
| NR_134474.1:n.297-2A>G | ||
| NR_134475.1:n.332-2A>G | ||
| NM_002495.4:c.178-2A>G MANE Select | NP_002486.1:n.178-2A>G | |
| NM_001318051.2:c.178-2A>G | NP_001304980.1:n.178-2A>G | |
| NR_134473.2:n.374-2A>G | ||
| NR_134474.2:n.291-2A>G | ||
| NR_134475.2:n.326-2A>G |