Linked Data
dbSNP Id:
rs180828073
ExAC:
5:52954361 A / G
gnomAD v3:
5-53658531-A-G
gnomAD v4:
5-53658531-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53658531A>G , CM000667.2:g.53658531A>G | GRCh38 |
| NC_000005.9:g.52954361A>G , CM000667.1:g.52954361A>G | GRCh37 |
| NC_000005.8:g.52990118A>G | NCBI36 |
| NG_008200.1:g.102897A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.351-20A>G MANE Select | ENSP00000296684.5:n.351-20A>G | |
| ENST00000296684.9:c.351-20A>G | ENSP00000296684.5:n.351-20A>G | |
| ENST00000502423.5:c.*218-20A>G | ENSP00000422177.1:n.*218-20A>G | |
| ENST00000506765.1:c.338+12126A>G | ENSP00000424570.1:n.338+12126A>G | |
| ENST00000506974.5:c.*127-20A>G | ENSP00000425967.1:n.*127-20A>G | |
| ENST00000507026.5:c.*325-20A>G | ENSP00000424993.1:n.*325-20A>G | |
| ENST00000509443.1:n.212-20A>G | ||
| NM_002495.2:c.351-20A>G | NP_002486.1:n.351-20A>G | |
| XM_005248525.3:c.350+12126A>G | XP_005248582.1:n.350+12126A>G | |
| XM_011543415.1:c.177-20A>G | XP_011541717.1:n.177-20A>G | |
| NM_001318051.1:c.350+12126A>G | NP_001304980.1:n.350+12126A>G | |
| NM_002495.3:c.351-20A>G | NP_002486.1:n.351-20A>G | |
| NR_134473.1:n.553-20A>G | ||
| NR_134474.1:n.470-20A>G | ||
| NR_134475.1:n.505-20A>G | ||
| NM_002495.4:c.351-20A>G MANE Select | NP_002486.1:n.351-20A>G | |
| NM_001318051.2:c.350+12126A>G | NP_001304980.1:n.350+12126A>G | |
| NR_134473.2:n.547-20A>G | ||
| NR_134474.2:n.464-20A>G | ||
| NR_134475.2:n.499-20A>G |