Linked Data
dbSNP Id:
rs10469966
gnomAD v2:
2-73752368-G-A
gnomAD v3:
2-73525241-G-A
gnomAD v4:
2-73525241-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73525241G>A , CM000664.2:g.73525241G>A | GRCh38 |
| NC_000002.11:g.73752368G>A , CM000664.1:g.73752368G>A | GRCh37 |
| NC_000002.10:g.73605876G>A | NCBI36 |
| NG_011690.1:g.144489G>A , LRG_741:g.144489G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682565.1:c.9400+5225G>A | ENSP00000507671.1:n.9400+5225G>A | |
| ENST00000682801.1:c.9400+5225G>A | ENSP00000507862.1:n.9400+5225G>A | |
| ENST00000682859.1:c.9400+5225G>A | ENSP00000508222.1:n.9400+5225G>A | |
| ENST00000683791.1:c.2792+5225G>A | ||
| ENST00000684460.1:c.6852+5225G>A | ||
| ENST00000684548.1:c.9400+5225G>A | ENSP00000507421.1:n.9400+5225G>A | |
| ENST00000684590.1:c.3847+5225G>A | ENSP00000507376.1:n.3847+5225G>A | |
| ENST00000684656.1:c.6852+5225G>A | ||
| ENST00000613296.6:c.9781+5225G>A MANE Select | ENSP00000482968.1:n.9781+5225G>A | |
| ENST00000651057.1:c.61+5225G>A | ENSP00000498504.1:n.61+5225G>A | |
| ENST00000651434.1:c.1137+5225G>A | ||
| ENST00000652487.1:c.878+5225G>A | ||
| ENST00000423048.5:c.3272+5225G>A | ENSP00000399833.1:n.3272+5225G>A | |
| ENST00000476650.2:n.72+5225G>A | ||
| ENST00000484298.5:c.9655+5225G>A | ENSP00000478155.1:n.9655+5225G>A | |
| ENST00000613296.4:c.9781+5225G>A | ENSP00000482968.1:n.9781+5225G>A | |
| ENST00000614410.4:c.9781+5225G>A | ENSP00000479094.1:n.9781+5225G>A | |
| ENST00000620466.4:n.3584+5225G>A | ||
| NM_015120.4:c.9784+5225G>A , LRG_741t1:c.9784+5225G>A | NP_055935.4:n.9784+5225G>A | |
| NM_001378454.1:c.9781+5225G>A MANE Select | NP_001365383.1:n.9781+5225G>A |