Linked Data
dbSNP Id:
rs1413319794
gnomAD v2:
11-17656741-C-T
gnomAD v4:
11-17635194-C-T
COSMIC:
COSM5483168
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17635194C>T , CM000673.2:g.17635194C>T | GRCh38 |
| NC_000011.9:g.17656741C>T , CM000673.1:g.17656741C>T | GRCh37 |
| NC_000011.8:g.17613317C>T | NCBI36 |
| NG_033191.1:g.92822C>T | |
| NG_033191.2:g.92822C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.7729+7C>T | ENSP00000382323.2:n.7729+7C>T | |
| ENST00000399397.6:c.7693+7C>T MANE Select | ENSP00000382329.2:n.7693+7C>T | |
| ENST00000342528.2:c.4322-416C>T | ENSP00000341666.2:n.4322-416C>T | |
| ENST00000399391.6:c.7729+7C>T | ENSP00000382323.2:n.7729+7C>T | |
| ENST00000399397.5:c.7693+7C>T | ENSP00000382329.2:n.7693+7C>T | |
| NM_001277269.1:c.7729+7C>T | NP_001264198.1:n.7729+7C>T | |
| NM_001292063.1:c.7693+7C>T | NP_001278992.1:n.7693+7C>T | |
| NM_001277269.2:c.7729+7C>T | NP_001264198.1:n.7729+7C>T | |
| NM_001292063.2:c.7693+7C>T MANE Select | NP_001278992.1:n.7693+7C>T |