Linked Data
dbSNP Id:
rs1202357507
gnomAD v2:
11-17656884-A-G
gnomAD v3:
11-17635337-A-G
gnomAD v4:
11-17635337-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17635337A>G , CM000673.2:g.17635337A>G | GRCh38 |
| NC_000011.9:g.17656884A>G , CM000673.1:g.17656884A>G | GRCh37 |
| NC_000011.8:g.17613460A>G | NCBI36 |
| NG_033191.1:g.92965A>G | |
| NG_033191.2:g.92965A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.7729+150A>G | ENSP00000382323.2:n.7729+150A>G | |
| ENST00000399397.6:c.7693+150A>G MANE Select | ENSP00000382329.2:n.7693+150A>G | |
| ENST00000342528.2:c.4322-273A>G | ENSP00000341666.2:n.4322-273A>G | |
| ENST00000399391.6:c.7729+150A>G | ENSP00000382323.2:n.7729+150A>G | |
| ENST00000399397.5:c.7693+150A>G | ENSP00000382329.2:n.7693+150A>G | |
| NM_001277269.1:c.7729+150A>G | NP_001264198.1:n.7729+150A>G | |
| NM_001292063.1:c.7693+150A>G | NP_001278992.1:n.7693+150A>G | |
| NM_001277269.2:c.7729+150A>G | NP_001264198.1:n.7729+150A>G | |
| NM_001292063.2:c.7693+150A>G MANE Select | NP_001278992.1:n.7693+150A>G |