Linked Data
dbSNP Id:
rs865789363
gnomAD v2:
11-17656906-G-A
gnomAD v3:
11-17635359-G-A
gnomAD v4:
11-17635359-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17635359G>A , CM000673.2:g.17635359G>A | GRCh38 |
| NC_000011.9:g.17656906G>A , CM000673.1:g.17656906G>A | GRCh37 |
| NC_000011.8:g.17613482G>A | NCBI36 |
| NG_033191.1:g.92987G>A | |
| NG_033191.2:g.92987G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.7729+172G>A | ENSP00000382323.2:n.7729+172G>A | |
| ENST00000399397.6:c.7693+172G>A MANE Select | ENSP00000382329.2:n.7693+172G>A | |
| ENST00000342528.2:c.4322-251G>A | ENSP00000341666.2:n.4322-251G>A | |
| ENST00000399391.6:c.7729+172G>A | ENSP00000382323.2:n.7729+172G>A | |
| ENST00000399397.5:c.7693+172G>A | ENSP00000382329.2:n.7693+172G>A | |
| NM_001277269.1:c.7729+172G>A | NP_001264198.1:n.7729+172G>A | |
| NM_001292063.1:c.7693+172G>A | NP_001278992.1:n.7693+172G>A | |
| NM_001277269.2:c.7729+172G>A | NP_001264198.1:n.7729+172G>A | |
| NM_001292063.2:c.7693+172G>A MANE Select | NP_001278992.1:n.7693+172G>A |